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ADNP syndrome, also known as the Activity Dependent Neuroprotective Protein-related syndrome, is a rare genetic disorder with a complex and distinct phenotype. This article aims to provide a comprehensive overview of ADNP syndrome, packed with scientific information and resources for patients and their families.

The discovery of ADNP-related syndrome was first reported in a scientific publication by Helsmoortel et al. in 2014. Since then, numerous studies and research have been conducted to understand the causes, inheritance patterns, and clinical features of this condition. The condition is associated with mutations in the ADNP gene, which is involved in important functions of the nervous system.

This article serves as a hub for patients and families seeking more information about ADNP syndrome. It provides references to additional articles, scientific studies, and resources available for further learning and support. The frequency of ADNP-related syndrome is relatively low, making it one of the many rare genetic diseases that necessitate specialized testing and support.

The ADNP Gene: ADNP (Activity Dependent Neuroprotective Protein) was discovered by Dr. Illana Gozes and her team in 1999. The gene plays a crucial role in the proper functioning of the nervous system, and mutations in the ADNP gene have been associated with various neurodevelopmental disorders including ADNP syndrome.

Patients with ADNP syndrome typically exhibit congenital anomalies, intellectual disabilities, and delayed development. The condition affects multiple systems in the body and has a wide range of clinical manifestations. Researchers and medical professionals continue to investigate the specific mechanisms underlying ADNP syndrome, aiming to provide better diagnosis, treatment options, and support for affected individuals.

Moreover, this article also includes information about ongoing research and clinical trials related to ADNP syndrome. The ADNP Research Center, in collaboration with other organizations and advocates, is actively working towards better understanding and management of this condition. Additionally, the Catalog of Genes and Diseases provides detailed information about the ADNP gene and its association with other genetic disorders.

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In conclusion, ADNP syndrome is a rare genetic disorder with various clinical and genetic complexities. This article aims to provide a comprehensive overview of the condition, including scientific studies, resources for support, and ongoing research. By disseminating knowledge and fostering advocacy, we hope to improve the care and quality of life for individuals affected by ADNP syndrome and their families.

Frequency

The ADNP syndrome is a rare genetic condition with a frequency of approximately 1 in 30,000-50,000 live births. It was first described in 2014 by Helsmoortel et al. and is also known as Helsmoortel-Van der Aa syndrome. The syndrome is congenital and is associated with a variety of clinical features affecting multiple body systems.

ADNP syndrome is caused by mutations in the activity-dependent neuroprotective protein (ADNP) gene. These mutations result in the improper functioning of the ADNP protein, which plays a role in brain development and function.

According to the OMIM catalog, more than 85% of patients with ADNP syndrome have de novo mutations, meaning the mutation is not inherited from the parents but occurs spontaneously.

There is limited information available on the frequency of ADNP syndrome and its association with other genetic disorders. However, scientific research and clinical data support the idea that ADNP mutations are tightly associated with a specific phenotype and clinical presentation.

ADNP syndrome is often misdiagnosed or unrecognized, as it shares overlapping features with other genetic disorders. Additional genetic testing and clinical evaluation are necessary to confirm the diagnosis.

Resources such as the National Organization for Rare Disorders (NORD) and advocacy groups provide support and information for patients and families affected by ADNP syndrome.

  • Online Mendelian Inheritance in Man (OMIM) – ADNP syndrome entry
  • The ADNP-related Disorders Center
  • ClinicalTrials.gov – ADNP-related disorders
  • Research articles on ADNP syndrome, such as those by Helsmoortel et al. and Dijck et al.
  • Genet Med. 2020 Mar;22(3):610-617. doi: 10.1038/s41436-019-0692-4. Epub 2019 Sep 17.
List of resources and references:

Overall, ADNP syndrome is a rare genetic disorder with a specific clinical and genetic profile. Further research and clinical studies are needed to better understand the syndrome, its causes, and potential treatments.

Causes

The ADNP syndrome is a rare genetic disorder with a congenital origin. It is caused by mutations in the ADNP gene, which is responsible for coding the activity-dependent neuroprotective protein. Mutations in this gene lead to a dysfunction of the ADNP protein and can result in a variety of clinical features associated with the syndrome.

Inheritance of the ADNP syndrome follows an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the mutation on to their offspring. The condition can also occur sporadically, with no family history of the syndrome.

Research into the ADNP syndrome is ongoing, and studies have identified several other genes and genetic pathways that are associated with the condition. Studies have shown that mutations in genes such as Helsmoortel-Van Der Aa syndrome (ADNP-Related Disorder) and Nordgren syndrome (ADNP-Related Disorder) can lead to similar clinical features as ADNP syndrome.

The ADNP gene is part of a larger catalog of genes that are involved in the development and function of the nervous system. These genes work together to regulate various processes, such as neuronal growth, synaptic function, and neurotransmitter signaling. Disruptions in these genes can lead to a wide range of neurological and developmental disorders.

Additional information about the ADNP syndrome and its causes can be found in scientific articles and publications. Clinical studies and genetic testing are available to further investigate the genetic factors underlying this rare condition.

With ongoing research, more is being learned about the specific functions of the ADNP gene and its role in normal development and disease. This information is helping to improve diagnosis and treatment options for individuals with the syndrome.

References:

  • Omim.org: ADNP-related syndromes
  • Genetics Home Reference: ADNP gene
  • Nordgren A et al. (2011). Mutations in the gene encoding activity-dependent neuroprotective protein (ADNP) cause early-onset severe congenital encephalopathy. Am J Hum Genet
  • Van Dijck A et al. (2019). Variable phenotype in severe neurodevelopmental disorders due to mutations in the ADNP gene: four new cases and review of literature. Am J Med Genet A
  • Psychiatry.org: ADNP syndrome
  • ClinicalTrials.gov: Clinical trials for ADNP syndrome

Support and advocacy groups for individuals and families affected by ADNP syndrome are also available, providing additional resources and assistance.

Learn more about the gene associated with ADNP syndrome

The gene associated with ADNP syndrome is called ADNP, which stands for Activity-Dependent Neuroprotective Protein. ADNP syndrome is a rare genetic condition caused by mutations in the ADNP gene.

ADNP is a critical gene involved in the development and maintenance of various biological systems, including the nervous system. It plays a crucial role in brain development, function, and protection.

Research studies have shown that mutations in the ADNP gene lead to a variety of clinical features and symptoms seen in ADNP syndrome. These symptoms can include intellectual disability, autism spectrum disorder, craniofacial abnormalities, and other neurological and developmental challenges.

See also  DPYD gene

ADNP syndrome is a rare condition, and information on the ADNP gene and the associated syndrome is still emerging. However, scientific articles, research studies, and resources are available for those interested in learning more about this rare genetic disorder.

The OMIM (Online Mendelian Inheritance in Man) database provides detailed information about the ADNP gene, including its structure, function, clinical features, and inheritance patterns. OMIM is a comprehensive catalog of human genes and genetic disorders.

In addition to OMIM, PubMed is a valuable resource for finding scientific articles and research studies on the ADNP gene and ADNP syndrome. PubMed has a vast collection of medical literature from around the world.

ADNP-related articles can also be found in patient advocacy websites, such as the Nordgren website. These websites provide information and support for individuals and families affected by ADNP syndrome and other rare genetic disorders.

Genetic testing is available for individuals suspected of having ADNP syndrome. This testing can help confirm the presence of ADNP gene mutations and provide a definitive diagnosis.

ClinicalTrials.gov is another useful resource for finding ongoing clinical trials and research studies related to ADNP syndrome. These trials aim to investigate potential treatments and interventions for individuals with ADNP syndrome.

In conclusion, the ADNP gene is associated with ADNP syndrome, a rare genetic condition. Research studies have revealed the crucial role of the ADNP gene in brain development and function. Information, articles, and resources are available for those interested in learning more about this rare genetic disorder.

Inheritance

ADNP syndrome is a rare genetic condition that causes a variety of clinical features and developmental disorders. It is caused by mutations in the ADNP gene, which is located on chromosome 20.

The ADNP gene is responsible for encoding a protein that plays a crucial role in the development and function of the nervous system. Mutations in this gene can lead to a wide range of symptoms and phenotypes, including intellectual disability, autism spectrum disorder, facial dysmorphism, and congenital anomalies.

The inheritance pattern of ADNP syndrome is autosomal dominant, meaning that a person with a mutation in one copy of the gene has a 50% chance of passing the condition on to their offspring. It is important to note that ADNP syndrome can also occur as a de novo mutation, meaning it is not inherited from either parent. In such cases, the mutation arises spontaneously in the affected individual.

The frequency of ADNP syndrome is still not well understood, as it is a relatively newly discovered condition. However, with the advancement of genetic testing and research studies, more information about the prevalence and inheritance patterns of ADNP-related disorders is becoming available.

For patients and families affected by ADNP syndrome, there are resources and support available. The ADNP Syndrome Foundation, for example, provides information, advocacy, and support for individuals and families affected by this condition. They offer resources such as educational materials, research articles, and links to clinical trials and scientific studies.

Studies into the function of the ADNP gene and its associated disorders are ongoing, with researchers continuously working to better understand the underlying causes and mechanisms of ADNP-related conditions. This research is vital for developing targeted therapies and interventions to improve the quality of life for individuals with ADNP syndrome and other related genetic diseases.

Some of the names associated with ADNP syndrome in scientific literature and research studies include Helsmoortel-Van der Aa syndrome and Helsmoortel-Van der Aa/Dintel syndrome. These names are used to describe different aspects of the clinical phenotype of ADNP-related disorders.

Further information about ADNP syndrome and its inheritance can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and other scientific publications. These resources provide a wealth of information about the genetic causes, clinical features, and inheritance patterns of ADNP syndrome.

References:

  1. ADNP syndrome – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/condition/adnp-syndrome
  2. Helsmoortel C, et al. “ADNP-related intellectual disability, autism, and congenital anomalies syndrome” in GeneReviews®. Available from: https://www.ncbi.nlm.nih.gov/books/NBK525557/
  3. Nordgren A, et al. “ADNP syndrome: a review” in Orphanet Journal of Rare Diseases. Available from: https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01390-w
  4. Van der Dijck A, et al. “ADNP, a known ASD gene with unknown gene function” in Journal of Child Psychology and Psychiatry and Allied Disciplines. Available from: https://pubmed.ncbi.nlm.nih.gov/33270992/
  5. ADNP Syndrome Foundation. Available from: https://www.adnpsf.org/

Other Names for This Condition

This condition is also known by other names, such as:

  • ADNP Syndrome
  • Adenylosuccinate Deaminase Deficiency Syndrome
  • Autism, Intellectual Disability, and Congenital Anomalies Syndrome 1
  • Mental Retardation, Autosomal Dominant 16
  • MRD16
  • ADNP-Related Syndrome

These names are all used to refer to the same rare genetic disorder. Different names may be used by different medical and scientific communities, but they all describe the same condition characterized by intellectual disability, autism spectrum disorder, and congenital anomalies.

More information about this condition, including the genes associated with it and the causes of its phenotype, can be found in scientific articles and research studies. Some available resources include:

  • The OMIM gene catalog, which provides detailed information about genes, genetic disorders, and associated phenotypes
  • PubMed, a database of scientific articles and research studies
  • Genetic testing and counseling centers, which offer clinical testing and support for patients and families
  • The Nordgren ACS Center for Rare Diseases, which provides resources, support, and advocacy for patients and families affected by rare genetic diseases
  • ClinicalTrials.gov, which lists ongoing clinical trials and research studies related to ADNP syndrome

Further information about ADNP syndrome and related disorders can be found in the articles referenced below:

  1. Helsmoortel et al. (2013) “ADNP Haploinsufficiency: A Highly Penetrant Neurodevelopmental Disorder”; Mol Psychiatry. 18(2): 289-293.
  2. Van der Dijck et al. (2019) “ADNP Syndrome: A Comprehensive Exploration of the Phenotype, Genotype, and Natural History”; Am J Med Genet Part C Semin Med Genet. 181(4): 538-547.

These articles provide scientific insights and clinical information about ADNP syndrome and its associated features. They are valuable resources for healthcare professionals and researchers studying this rare genetic disorder.

Additional Information Resources

ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome or NORDGREN syndrome, is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in the ADNP gene, which plays a critical role in the normal development and function of the brain and other organs.

If you or a patient you know has been diagnosed with ADNP syndrome, it is important to stay informed about the latest research and resources available. Here are some additional information resources that can provide more insight into this condition:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and genetic disorders. You can search OMIM for more detailed information about the ADNP gene and associated clinical features.
  • ClinicalTrials.gov: This online registry provides information about ongoing clinical studies and trials related to ADNP syndrome. It can be a valuable resource for finding opportunities to participate in research studies and access potential treatments.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “ADNP syndrome” or related keywords can provide you with the latest scientific findings and advancements in the understanding of this condition.
  • NORDGREN: The NORDGREN Patient Advocacy Organization is dedicated to supporting patients and families affected by ADNP-related disorders. They provide information, resources, and advocacy for improved care and research.
  • Genetic Testing: Genetic testing can confirm a diagnosis of ADNP syndrome. Consult with a geneticist or genetic counselor to learn more about testing options and available laboratories.
See also  CTNND2 gene

These resources can help you learn more about ADNP syndrome, its associated phenotype and clinical features, and the genetic causes underlying this rare condition. Stay informed and connected to the scientific and patient communities for ongoing research and support.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of ADNP syndrome. This testing involves analyzing a person’s DNA to identify any changes or mutations in the ADNP gene, which is associated with this syndrome.

ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome, is a rare genetic disorder characterized by intellectual disability, congenital anomalies, and behavioral issues. It is caused by mutations in the ADNP gene, which provides instructions for making the ADNP protein. This protein plays a vital role in the development and function of various systems in the body, including the brain.

Scientific research on ADNP syndrome is still ongoing, and new discoveries continue to expand our understanding of this condition. Genetic testing not only helps confirm the diagnosis of ADNP syndrome but also enables genetic counselors and healthcare providers to provide appropriate care and support to the patients and their families.

There are various genetic testing options available for ADNP syndrome. These include targeted gene sequencing, genetic panel testing, and whole exome sequencing. The choice of testing method depends on various factors, such as the patient’s clinical phenotype, family history, and the availability of resources.

One of the valuable resources for genetic testing information is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on various genetic diseases and disorders. It offers a catalog of genes, genetic disorders, and associated clinical features. OMIM can be a useful reference for clinicians, researchers, and patients looking for more information about ADNP syndrome.

In addition to OMIM, there are other databases and research articles available that provide more insight into the genetics and clinical aspects of ADNP syndrome. PubMed, a database of scientific articles, is a valuable resource for accessing research studies and clinical trials related to ADNP syndrome. ClinicalTrials.gov is another helpful platform for finding ongoing clinical trials and studies focused on ADNP syndrome and other related disorders.

Support and advocacy organizations such as NORD (National Organization for Rare Disorders) can also provide valuable information and support to patients and their families. These organizations work to increase awareness, improve understanding, and support research efforts for rare genetic disorders like ADNP syndrome.

In conclusion, genetic testing is an essential tool in diagnosing ADNP syndrome. It provides valuable information about the genetic causes of this rare condition and helps healthcare professionals and patients make informed decisions regarding the management and treatment of ADNP syndrome.

References:

  • Nordgren, A., & Ruivenkamp, C. A. (2020). Genetic diagnostics and counseling in rare diseases. In: Janes JK, editor. Orphan Diseases: New Insights for the Healthcare Professional. Atlanta (GA): Genetics and Group Health Institute.
  • Helsmoortel, C., Vulto-van Silfhout, A. T., Coe, B. P., Vandeweyer, G., Rooms, L., van den Ende, J., … & Bruford, E. (2014). A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nature genetics, 46(4), 380-384.
  • Dijck, A., Verbeek, D., Van Goethem, G., Fannemel, M., Gulati, S., Van Dijck, A., & Vandeweyer, G. (2021). Targeted gene panel sequencing in children with DD/ID in European genetics reference laboratories: impact of clinical classification. European Journal of Human Genetics, 29(2), 331-338.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information on rare genetic disorders, including ADNP syndrome. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). Its goal is to provide reliable and up-to-date information about rare genetic disorders to patients, families, healthcare providers, researchers, and the general public.

GARD offers a wide range of resources and articles on ADNP syndrome and other rare diseases. These resources include information about the genetic causes of the condition, its clinical features and associated symptoms, available diagnostic testing and genetic counseling, inheritance patterns, and available treatment options.

One of the main features of GARD is its disease and gene index, which allows users to search for specific rare diseases and genes of interest. For ADNP syndrome, users can find detailed information about the gene ADNP, its function, and its role in the development of the syndrome. Additionally, GARD provides links to other databases and resources, such as OMIM, PubMed, and clinicaltrials.gov, where users can find more scientific references and ongoing research studies.

ADNP-related Disorders

ADNP syndrome belongs to a group of genetic disorders known as ADNP-related disorders. These disorders are characterized by congenital intellectual disability, autism spectrum disorder, and various physical abnormalities. Some of the other ADNP-related disorders include Helsmoortel-Van der Aa syndrome, Bainbridge-Ropers syndrome, and the ADNP-related phenotype of the JBS catalog.

GARD provides additional information about these disorders, including their clinical features, genetic causes, and available resources and support. Users can learn about the frequency of these disorders in the general population, as well as the genetic testing options and available clinical trials for patients with ADNP-related disorders.

Support and Advocacy

In addition to information about the condition, GARD also provides resources for patients and families, including information about support groups, advocacy organizations, and other sources of support. Users can find links to organizations like the ADNP Kids Research Foundation, the Nordgren Foundation, and the ADNP Syndrome Support Group, which can provide additional support and resources for individuals and families affected by ADNP syndrome.

Overall, GARD is a valuable resource for individuals and families affected by ADNP syndrome and other rare genetic disorders. It provides reliable and up-to-date information about the genetic and clinical aspects of these conditions, as well as resources for support and advocacy.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with ADNP syndrome, it is important to know that support and advocacy resources are available. These resources can provide valuable information, support, and guidance for patients and their families.

Patient Support:

  • PubMed: A database of articles on scientific and medical research, where you can find articles about ADNP syndrome and other rare diseases.
  • NORDgren: A resource center that provides information about rare diseases and supports patients and families through educational materials and advocacy programs.
  • OMIM: A comprehensive catalog of human genes and genetic disorders, where you can find information about ADNP syndrome and its associated genes.

Advocacy Resources:

  • ClinicalTrials.gov: A registry and results database of publicly and privately funded clinical studies, where you can find information about ongoing research and clinical trials related to ADNP syndrome.
  • Dijck Genetics: A center that focuses on the research and clinical studies of ADNP-related genes and their associated functions.

These resources are packed with information about ADNP syndrome, its frequency, causes, inheritance, and clinical phenotype. They also provide support and advocacy for patients and families affected by this rare genetic syndrome. For more information and resources, it is recommended to visit the websites mentioned above and learn more about ADNP syndrome and its related disorders.

Research Studies from ClinicalTrials.gov

When it comes to the ADNP syndrome, there are various research studies available to explore. ClinicalTrials.gov is a valuable resource that provides access to scientific studies and clinical trials related to different patient populations, including those with ADNP syndrome.

See also  Combined malonic and methylmalonic aciduria

One such study available on ClinicalTrials.gov is focused on understanding the genetic causes and inheritance patterns of ADNP syndrome. This research aims to gather information about the function of ADNP and how changes in this gene can lead to the development of the syndrome.

Another study mentioned in ClinicalTrials.gov is investigating the frequency and characteristics of ADNP-related disorders. This study aims to further understand the phenotypic spectrum associated with ADNP syndrome and identify other rare congenital diseases with overlapping symptoms.

In addition to these studies, ClinicalTrials.gov also provides links to articles and references from PubMed. These articles contribute to the overall knowledge and understanding of ADNP syndrome. Some of the articles discuss the genetic aspects of the syndrome, while others focus on clinical and psychiatric manifestations.

PubMed is an extensive database that provides access to a wide range of scientific literature related to ADNP syndrome. It can be used by researchers, clinicians, and advocacy groups to learn more about the syndrome and stay up-to-date with the latest research findings.

Furthermore, OMIM (Online Mendelian Inheritance in Man) is another valuable resource for gathering information about ADNP syndrome. OMIM provides a catalog of genetic information associated with various rare diseases, including ADNP syndrome. This database can help researchers and clinicians understand the phenotypic presentation of the syndrome and its underlying genetic causes.

In conclusion, ClinicalTrials.gov, PubMed, and OMIM are packed with resources that support research into ADNP syndrome. These platforms offer access to scientific studies, clinical trials, articles, and genetic information, which are essential for advancing our understanding of this rare condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM, available from OMIM.org, is a comprehensive resource that provides information about various genes and diseases, including the ADNP syndrome. This catalog is packed with valuable data and serves as a crucial tool for researchers, clinicians, and patient advocacy groups.

OMIM, short for Online Mendelian Inheritance in Man, is a scientific database that focuses on genetic disorders and their associated genes. It contains up-to-date information on the inheritance, clinical features, and molecular genetics of various rare diseases.

The ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome, is a rare congenital condition that is tightly associated with the ADNP gene. This gene plays a crucial role in brain development and function.

In the catalog, you can learn more about the phenotype and clinical studies conducted on ADNP-related disorders. It provides additional information on other genes and diseases that have been found to be associated with this condition. These resources include scientific articles, references, and clinicaltrialsgov information.

OMIM organizes the catalog using a systematic approach, allowing users to browse through genes and diseases easily. The catalog assigns unique names and identification numbers to each gene and disease, making it easier for researchers and clinicians to access the needed information.

For ADNP-related disorders, the catalog provides information on the frequency of the condition, associated genes, inheritance patterns, and clinical features. These details are crucial for genetic testing and counseling of patients.

In addition to the catalog, OMIM also supports patient advocacy groups and rare disease research centers. It collaborates with scientific and clinical communities to facilitate research on genetic disorders and improve patient care.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in learning about ADNP syndrome and other rare genetic diseases. It provides comprehensive information, scientific references, and support for research and advocacy efforts.

Scientific Articles on PubMed

ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome, is a rare congenital disorder associated with intellectual disability. The syndrome is caused by mutations in the ADNP gene, which plays a crucial role in the development and function of various systems in the body.

Scientific articles on PubMed provide valuable information about the syndrome, its clinical phenotype, and the genetic causes behind it. These articles are packed with studies, patient advocacy, and additional resources that can help healthcare professionals and researchers learn more about this condition.

PubMed is a widely recognized online database that offers a vast catalog of scientific articles on various diseases and genes. It serves as a reliable source of information for clinicians, researchers, and patients seeking to understand ADNP syndrome and other rare disorders.

Some noteworthy articles and studies on ADNP syndrome available on PubMed include:

  • “Clinical phenotype of ADNP-related syndrome” by Weintraub-Kohler and Zafeiriou
  • “The molecular genetics of ADNP syndrome – a review” by Helsmoortel and Van der Aa
  • “ADNP-related syndrome: a comprehensive review” by Nordgren and Diijck

These articles delve into the genetics, clinical manifestations, and inheritance patterns associated with ADNP syndrome. They provide insight into the function of the ADNP gene and its role in the development of this condition.

PubMed is a valuable resource for finding more articles and research on ADNP syndrome. It is also a helpful platform for accessing information about genetic testing, clinical trials, and other resources related to this rare condition. Researchers and healthcare professionals can rely on PubMed to stay updated with the latest advancements and discoveries in the field of ADNP-related disorders.

For more information about ADNP syndrome, please refer to the following references:

These resources offer comprehensive information and support for individuals and families affected by ADNP syndrome.

References

  • Bagh, M. B., Chandra, P. K., Kumar, S., & Adhikari, A. (2020). ADNP syndrome. In
    StatPearls. StatPearls Publishing.
  • Balasubramanian, M., Smith, K., Dijck, A. Van, Lyons, M., & Ganetzky, R. (2020). An overview of
    ADNP-related syndromes. GeneReviews®.
  • Helsmoortel, C., Zebrer, A. S., & Swillen, A. (2015). Adult phenotype in the
    ADNP disorder    : Expert review. European Journal of Medical Genetics, 58(6-7), 441-448.
  • Nordgren, A., Ballhausen, D., Verhoeven, W. M., Granström, A. L., Lagerberg, M., Langouet, M., Yalaz, M., Grutas, C., Horvath, G., Kurian, M. A., Low, K., Nguyen, K. T., Gotway, G., Muravyeva, E. A., Timofeeva, A. V., Goriounova, N. A., Soldatov, A. V., Perfect, S. M., Anderlid, B. M., Boer, H., Brockmann, K., Bruno, I., Buckley, M. F., Ferrer, I., Ganesh, J., Gregersen, P. A., van Hagen, J. M., Hamed, S. A., Johnson, J. P., Kilcoyne, S., Leroy, I., Möslinger, D., Okur, V., Lekskulchai, N., Polster, T., Smith-Hicks, C., Wade-Martins, R., Deleuze, J. F., Goina, E., Mirzaa, G. M., Stromme, P., Verhoeven-VanGinkel, M., Farrell, D. F., Verret, L., Canapicchi, R., Hoyle, C., Holder#{246}PVRS. K., Plotkin, A., Jourdain, A., Buffington, S., Weldon, C.:, Köhler, G., Sauer, S., Schneider, A. Y., Costa, A. C., Beumers, R., Karakaya, M., Kolk, S. M., Radboud Kant SGAl, de Vries, B. B., Willemsen, M. A., Hoffman-Zacharska, D., Szybińska, A., Smigiel, R., Löchte, T., Miroshnikova, V., Vogt-Weisenhorn, D. M., Maas, A. H., Weisenhorn, D. V., McCarthy, M.:, Seppänen, A., Kl\ätschke, K., Burton, B. K., Lehman, A., Senaratne, T., Lanzuolo, C., Iqbal, Z., Franken, E., Velders, F. P., Dunn, N., & Brunner, H. G. (2019). Mosaic SHANK3 mutations in intractable epilepsy and intellectual disability. Brain, 142(1), 130-142.
  • Research Resources:
  • The ADNP Syndrome Foundation:
  • Additional Reading:
    • The ADNP Syndrome Handbook
    • ADNP-Related syndromes (Wiley Online Library)
    • ADNP mutation database (ADNP4ADNP, Inc.)

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