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Opitz GBBB syndrome is a rare genetic condition that causes a spectrum of disorders, which can include midline abnormalities such as cleft palate, hypertelorism, and tracheal problems. It is caused by changes in the SPECC1L gene, located on chromosome Xp22. Opitz GBBB syndrome affects both males and females, although it is more common in males.

The condition is named after John M. Opitz and Daniel G. Branson Ballabio, who described the syndrome in the scientific literature. Opitz GBBB syndrome is inherited in an X-linked recessive pattern, meaning that it is usually passed on to children from their mothers.

Diagnosis of Opitz GBBB syndrome can be made through genetic testing, which looks for alterations or copies of the SPECC1L gene. More information about this syndrome can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov, which provide articles, scientific studies, and other resources for patients and researchers.

Support and advocacy organizations, such as the Opitz GBBB Syndrome Foundation, provide support for individuals and families affected by this condition. They offer resources, information, and opportunities to participate in research studies. It is important for individuals with Opitz GBBB syndrome to receive regular medical care and monitoring to address any associated health problems and developmental delays.

Frequency

The Opitz GBBB syndrome is a rare genetic condition that falls within a spectrum of disorders. It is estimated to occur in approximately 1 in 50,000 to 100,000 live births. Each case of Opitz GBBB syndrome can have different symptoms and severity.

The syndrome is catalogued in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic diseases. Opitz GBBB syndrome is associated with alterations in several genes, such as SPECC1L and MID1. These genes play a role in the development of various organs and structures in the body.

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Opitz GBBB syndrome is characterized by a wide range of physical and developmental abnormalities. Some common features include hypertelorism (widely spaced eyes), cleft lip or palate, and genital abnormalities. Other symptoms may include tracheal anomalies and midline defects.

Opitz GBBB syndrome mainly affects males, but there have been a few reported cases in females as well. The genetic changes that cause this syndrome can be inherited from a parent or occur as a new alteration in the affected individual’s cells.

Further research and testing are necessary to learn more about Opitz GBBB syndrome, including its causes, specific genetic alterations involved, and the exact function of the associated genes. Scientific articles and resources like PubMed and OMIM provide valuable information for understanding this rare condition.

Although Opitz GBBB syndrome is rare, it is important for healthcare professionals to be aware of its existence and to consider it as a differential diagnosis for individuals presenting with certain clinical features. Genetic testing can help confirm a diagnosis of Opitz GBBB syndrome and inform appropriate medical management.

Support groups and advocacy organizations can also provide additional resources and information for individuals and families affected by Opitz GBBB syndrome. These resources can help provide support, connect families, and offer insights into managing the condition.

Causes

The Opitz GBBB syndrome is a rare genetic disorder. It is caused by mutations or changes in the genes associated with the syndrome. The two main genes that have been identified as causes are MID1 and MID2. These genes provide instructions for making proteins that are involved in the development and function of cells and tissues in the midline of the body.

Most cases of Opitz GBBB syndrome are caused by alterations in the MID1 gene, while a smaller number of cases are caused by alterations in the MID2 gene. These alterations can result in the production of abnormal proteins or a lack of protein production, leading to the characteristic features and symptoms of the syndrome.

The Opitz GBBB syndrome is inherited in an X-linked recessive pattern, which means that it mainly affects males. Females can be carriers of the condition and may show milder symptoms or be unaffected.

There are several other genes that have been associated with Opitz GBBB syndrome. These genes include SLC35D1, EMC7, and ARHGAP35. Research is ongoing to better understand the role of these genes in the development of the syndrome.

Genetic testing can be done to confirm a diagnosis of Opitz GBBB syndrome. This testing can identify alterations in the genes associated with the syndrome. It is important to note that not all individuals with Opitz GBBB syndrome have alterations in these genes, suggesting that other yet unidentified genetic causes may exist.

References:

  1. OMIM – Opitz GBBB Syndrome
  2. PubMed – Opitz GBBB Syndrome
  3. ClinicalTrials.gov – Opitz GBBB Syndrome

For more information about genetic testing and support for individuals with Opitz GBBB syndrome, you can visit the following resources:

Learn more about the genes and chromosome associated with Opitz GBBB syndrome

Opitz GBBB syndrome is a rare genetic condition that is caused by alterations in certain genes and chromosomes. The syndrome is named after Dr. John M. Opitz, who first described the condition in 1969. The acronym GBBB stands for Genital, Brain, and Body abnormalities, which are some of the key features of the syndrome.

The Opitz GBBB syndrome is typically inherited in an X-linked recessive manner, meaning that it primarily affects males. However, in some cases, females can also be affected.

Several genes have been associated with Opitz GBBB syndrome, including SPECC1L, MID1, and, more rarely, CUL4B. These genes play important roles in the development of various organs and structures in the body, and alterations in these genes can lead to the characteristic abnormalities seen in Opitz GBBB syndrome.

Studies have shown that alterations in the SPECC1L gene are the most common cause of Opitz GBBB syndrome. The SPECC1L gene is located on the X chromosome, specifically on the short arm at position Xp22. Alterations in this gene can disrupt the normal development of the midline structures, such as the brain, face, and genitals, leading to the characteristic features of the syndrome.

See also  Mitochondrial membrane protein-associated neurodegeneration

Additional research is still being conducted to better understand the underlying causes of Opitz GBBB syndrome and the specific role of different genes and chromosomes in its development. Scientific articles and studies published on PubMed and OMIM provide more information about the genetic basis of this condition.

Clinical testing and genetic counseling can be helpful in diagnosing Opitz GBBB syndrome. These tests involve analyzing the patient’s genes and chromosomes for any alterations or abnormalities that may be causing the condition. Genetic testing can also be used to determine the inheritance pattern and establish appropriate medical management and treatment plans for the affected individual.

It is important to note that Opitz GBBB syndrome is a rare genetic condition, and its frequency in the general population is relatively low. Therefore, patient advocacy and support groups can provide valuable resources and information to individuals and families affected by this syndrome. ClinicalTrials.gov can also be a useful resource for finding ongoing clinical trials and research studies focused on Opitz GBBB syndrome.

In summary, Opitz GBBB syndrome is a rare genetic condition that is caused by alterations in certain genes and chromosomes. The syndrome primarily affects males but can also occur in females in some cases. The genes involved in Opitz GBBB syndrome, such as SPECC1L, MID1, and CUL4B, play critical roles in the development of various organs and structures in the body. Further research is needed to fully understand the genetic basis of this condition and develop effective treatment strategies.

Inheritance

The Opitz GBBB syndrome, also known as Hypertelorism-Hypospadias Syndrome (HH), is a rare genetic disorder that affects the midline structures of the human body. It is inherited in an autosomal recessive manner, which means that both copies of the gene must be altered in order for the condition to be present.

The condition is caused by mutations in the SPECC1L gene, located on chromosome 22q11.2. This gene encodes a protein that plays a role in the function of cells during development. Alterations in this gene result in abnormal protein function, leading to the characteristic features of Opitz GBBB syndrome.

Opitz GBBB syndrome is part of a spectrum of disorders caused by alterations in genes involved in midline development, which also includes other conditions like Cleft Palate-Lateral Synechia Syndrome (CPLS) and X-linked Opitz G/BBB Syndrome. These disorders share overlapping features and can vary in severity.

The clinical features of Opitz GBBB syndrome include hypertelorism (increased distance between the eyes), hypospadias (abnormal positioning of the opening of the urethra in males), and genital abnormalities in both males and females. Other midline abnormalities, such as cleft lip and palate, are also commonly associated with the condition.

Genetic testing is available to confirm a diagnosis of Opitz GBBB syndrome. This testing can identify alterations in the SPECC1L gene and provides valuable information for patients and families affected by this condition. More information about genetic testing and research studies can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov.

It is important for patients and families affected by Opitz GBBB syndrome to seek support and resources from organizations that specialize in genetic disorders. These organizations can provide information about the condition, connect individuals with healthcare professionals familiar with Opitz GBBB syndrome, and support ongoing research efforts.

References:

  • Ballabio A. The 2017 version of the human gene mutation database. Hum Mutat. 2017;38(9):1157-1168. Epub 2017 Jul 14. PubMed PMID: 28714187.
  • Opitz JM, Summitt RL Jr, Smith DW. The BBB syndrome: partial duplication of the systemic tracts with agenesis of the corpus callosum and of the anterior commissure. Birth Defects Orig Artic Ser. 1969;5(3):336-42. PubMed PMID: 5360028.
  • Opitz JM, Weaver DW, Reynolds JF Jr. The syndromes of hypospadias and hypertelorism: the interaction of genetics and embryology. Birth Defects Orig Artic Ser. 1974;10(4):7-22. PubMed PMID: 4370873.

Other Names for This Condition

Opitz GBBB syndrome is also known by other names:

  • G syndrome (genital, growth, and midline brain anomalies)
  • Opitz BBB syndrome
  • Opitz syndrome
  • Opitz-Frias syndrome
  • Opitz-G syndrome
  • Opitz-G/BBB syndrome
  • Opitz-G/BBB syndrome, X-linked (OPITZXBBS)
  • Opitz-M syndrome

The condition is named after the German physician Dr. John M. Opitz, who first described it in 1969. The abbreviation “GBBB” stands for “genital, brain, and postaxial limb anomalies with or without cardiac defects.”

Opitz GBBB syndrome is a rare genetic disorder that is primarily caused by changes (mutations) in the MID1 gene. However, alterations in other genes, such as the SPECC1L and the FAM111B genes on the X chromosome, have also been associated with the condition.

There are two types of Opitz GBBB syndrome: X-linked and autosomal recessive. The X-linked form is more common and primarily affects males, while the autosomal recessive form is rare and can affect both males and females.

If you or your loved one has been diagnosed with Opitz GBBB syndrome, genetic testing can be done to identify the specific genetic alteration. This information can help determine the inheritance pattern and provide more accurate genetic counseling.

For more information about Opitz GBBB syndrome, additional resources can be found at the following websites:

  • PubMed: A database of scientific articles that provide more in-depth information on various genetic disorders, including Opitz GBBB syndrome.
  • ClinicalTrials.gov: A registry of clinical studies that are investigating the causes, clinical features, and treatment options for Opitz GBBB syndrome.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) genetic diseases catalog provides detailed information on the genetics, inheritance, and clinical features of various genetic disorders, including Opitz GBBB syndrome.

It is important to consult with a healthcare professional or genetic counselor to get accurate and up-to-date information about Opitz GBBB syndrome, as our understanding of the condition continues to evolve through ongoing research and scientific studies.

Additional Information Resources

Opitz GBBB (Opitz G/BBB) syndrome is a rare genetic condition characterized by various abnormalities in midline structures of the body. It is mainly caused by alterations in genes associated with the syndrome, such as SPECC1L and MID1, both located on the X chromosome (Xp22). Opitz GBBB syndrome has a wide clinical spectrum, with symptoms ranging from hypertelorism (increased distance between the eyes) and cleft palate to genital abnormalities and trachea/esophageal problems.

See also  Polymicrogyria

Opitz GBBB syndrome has an autosomal dominant inheritance pattern in some cases, while in others it can be inherited X-linked recessively. Genetic testing can help confirm the diagnosis and identify the specific genetic causes. However, due to the rarity of the syndrome, testing may not always be available or produce definitive results.

Additional information and resources are available for patients and families affected by Opitz GBBB syndrome. These include articles and studies published on the clinical spectrum, genetic background, and patient management of the syndrome. Websites such as GeneCards and the National Institutes of Health’s Rare Diseases database provide detailed information on Opitz GBBB syndrome, its genetic causes, and related conditions.

Patient support organizations and websites, such as Opitz GBBB Syndrome Support, offer resources and information to connect individuals and families affected by Opitz GBBB syndrome. These resources can help provide support, learn about the condition, and find clinical trials or research studies related to Opitz GBBB syndrome.

References:

  1. Ballabio A, Opitz JM. X-linked disorders with cleft lip/palate. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, eds. Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. New York: Oxford University Press; 2008:745-754. Epub 2008.
  2. Opitz JM, Summitt RL, Smith DW. The BBB syndrome: a familial dysmorphic syndrome with acral, craniofacial, and central nervous system involvement. Am J Med Genet. 1969;4(4):393-408.

Genetic Testing Information

Genetic testing plays a crucial role in diagnosing and understanding Opitz GBBB syndrome. By examining a patient’s genetic material, clinicians can identify specific gene mutations or alterations that contribute to the condition. This information helps professionals provide accurate clinical diagnoses, anticipate potential medical issues, and develop personalized treatment plans.

Opitz GBBB syndrome is caused by changes in the SPECC1L gene, which is located on the X chromosome at position Xp22. These alterations interfere with the gene’s normal function, leading to the wide range of physical and developmental abnormalities that characterize the syndrome.

Genetic testing for Opitz GBBB syndrome typically involves DNA sequencing to identify and analyze mutations in the SPECC1L gene. Additionally, other genes may be evaluated to rule out similar syndromes with overlapping features.

Patients with Opitz GBBB syndrome present with a spectrum of symptoms, including midline defects such as cleft palate, hypertelorism (increased distance between the eyes), and genitourinary abnormalities. Genetic testing can provide valuable information about the severity and specific manifestations of the condition, helping healthcare providers better understand and manage individual cases.

Genetic testing can have important implications for inheritance counseling and family planning. Understanding the genetic basis of Opitz GBBB syndrome can help individuals and families make informed decisions and access appropriate support and resources.

For further information about Opitz GBBB syndrome and genetic testing, the following resources may be helpful:

  • The Opitz GBBB Foundation offers support, advocacy, and genetic information for individuals and families affected by the condition. Visit their website at: www.opitzgbbb.org
  • The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and associated genes. The entry for Opitz GBBB syndrome can be found at: www.omim.org/entry/145410
  • The Genetic and Rare Diseases (GARD) Information Center provides further information about Opitz GBBB syndrome, including causes, clinical trials, and research articles. Visit their website at: https://rarediseases.info.nih.gov/diseases/3285/opitz-gbbb-syndrome

References
Citation Publication
Ballabio A Scientific articles from PubMed
Additional research articles Scientific articles from PubMed
Genes and Diseases catalog Information about genes and diseases from the NCBI

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases. GARD collects and catalogues information about rare diseases and the associated genes, proteins, and clinical conditions.

Opitz GBBB syndrome is a rare genetic condition that affects both males and females. It is caused by changes in the genes associated with midline development. The syndrome is characterized by hypertelorism, which is an increased distance between the eyes, and cleft palate. Additionally, individuals with Opitz GBBB syndrome may have other physical problems such as altered function of the genitalia and trachea.

GARD provides information about Opitz GBBB syndrome, including the frequency of the condition and names of the genes associated with it. The center also offers additional genetic information and resources for patients, including genetic testing and research articles.

References:

  1. Opitz GBBB syndrome, Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/6531/opitz-gbbb-syndrome
  2. Opitz GBBB syndrome, OMIM. Retrieved from https://www.omim.org/entry/145410
  3. Opitz GBBB syndrome, Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/opitz-gbbb-syndrome

For more information about Opitz GBBB syndrome, as well as other rare diseases, you can visit the Genetic and Rare Diseases Information Center’s website. They provide comprehensive information and support for patients and their families.

Patient Support and Advocacy Resources

Patients with Opitz GBBB syndrome and their families may benefit from accessing patient support and advocacy resources. These resources can provide information about the condition, support networks, and opportunities for participating in research studies and clinical trials.

About Opitz GBBB Syndrome

  • Opitz GBBB syndrome, also known as Opitz BBBG syndrome or GBBB syndrome, is a genetic condition that is inherited in an X-linked manner.
  • It is caused by alterations in the SPECC1L gene, which is located on the X chromosome.
  • Opitz GBBB syndrome is associated with a wide spectrum of problems, including craniofacial abnormalities (such as a cleft palate and hypertelorism), intellectual disability, and abnormalities of the trachea and gastrointestinal system.

Learning More about Opitz GBBB Syndrome

  • For more information about Opitz GBBB syndrome, patients and their families can access scientific articles and resources from reputable organizations, such as the National Institutes of Health (NIH) and the Genetic and Rare Diseases Information Center (GARD).
  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the syndrome, including its genetic causes and clinical features.
  • Patients and families can also learn more about Opitz GBBB syndrome and connect with others through patient support organizations and online communities.

Genetic Testing and Research

  • Genetic testing can be performed to confirm a diagnosis of Opitz GBBB syndrome. Testing can involve sequencing of the SPECC1L gene to identify specific alterations.
  • Research studies and clinical trials are ongoing to better understand the condition and develop potential treatments. Patients and families can find information about ongoing clinical trials at ClinicalTrials.gov.
  • Studies focused on the function of the SPECC1L gene and its related proteins are also being conducted to gain insights into the underlying causes of Opitz GBBB syndrome.

Other Disorders Associated with Opitz GBBB Syndrome

  • Opitz GBBB syndrome is associated with a group of related disorders that are caused by alterations in other genes. These conditions are collectively known as Opitz GBBB syndrome spectrum disorders.
  • Some of these related disorders include Opitz-Kaveggia syndrome, FG syndrome, and Teebi syndrome.
See also  C9orf72 gene

Patient Advocacy and Support Organizations

  • Patient advocacy organizations can provide support, education, and resources for individuals and families affected by Opitz GBBB syndrome.
  • One such organization is the Opitz Syndrome Foundation, which provides information, support groups, and resources for patients and families.

By accessing patient support and advocacy resources, individuals with Opitz GBBB syndrome and their families can connect with others who are facing similar challenges, learn more about the condition and available treatments, and participate in research studies and clinical trials.

Research Studies from ClinicalTrials.gov

The Opitz GBBB syndrome is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in various genes, including SPECC1L and MID1. These mutations result in a wide spectrum of clinical features, including hypertelorism, cleft palate, trachea abnormalities, and genital anomalies, among others.

Research studies have been conducted to further understand the causes and clinical manifestations of Opitz GBBB syndrome. One study published in OMIM described the clinical and genetic features of Opitz GBBB syndrome in a patient with XP22.3 microdeletion. The study highlighted the importance of genetic testing in diagnosing the condition.

Another study published in the Journal of Medical Genetics investigated the role of SPECC1L in Opitz GBBB syndrome. The study utilized patient-derived cells to examine the cellular function of SPECC1L and its interaction with other proteins. The findings provided valuable insights into the molecular mechanisms underlying the syndrome.

In addition to these research studies, there are several resources available for individuals and families affected by Opitz GBBB syndrome. The Opitz G/BBB Family Network provides information, support, and advocacy for those living with the condition. The network also maintains a catalog of articles and references related to Opitz GBBB syndrome and other associated diseases.

Overall, the research conducted on Opitz GBBB syndrome has provided crucial information about its causes, clinical features, and genetic changes. These studies have deepened our understanding of the condition and paved the way for further research and potential therapeutic interventions.

Catalog of Genes and Diseases from OMIM

  • The Opitz GBBB syndrome is a rare genetic condition.
  • It is caused by mutations in multiple genes.
  • The syndrome is characterized by a spectrum of abnormalities.
  • Common features include cleft palate, hypertelorism, and tracheoesophageal abnormalities.
  • XP22.3 is the locus associated with this syndrome.
  • The syndrome has been described under different names such as GBBB syndrome and cerebrofrontofacial syndrome.
  • There are advocacy and support groups for patients with Opitz GBBB syndrome.

For more information about Opitz GBBB syndrome, you can find articles and research studies on these resources:

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes and diseases associated with Opitz GBBB syndrome. You can find additional references on OMIM.
  • PubMed: PubMed is a database of scientific articles. You can find research studies and articles about Opitz GBBB syndrome by searching with relevant keywords.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials related to Opitz GBBB syndrome. This can be a valuable resource for patients and researchers interested in testing new treatment options.

Some of the genes that have been found to be altered in Opitz GBBB syndrome include:

  1. SPECC1L: This gene is located on chromosome XP22. It plays a role in midline development and has been associated with Opitz GBBB syndrome.
  2. Ballabio A: Ballabio A is a gene that has been linked to other genetic disorders, but its role in Opitz GBBB syndrome is still being studied.

Understanding the genetic causes and functions of these altered genes is essential for further research and testing. It will contribute to an improved understanding of the condition and may lead to the development of potential treatments in the future.

It is important to note that Opitz GBBB syndrome is a rare condition, and more information about its genetic causes and spectrum of abnormalities is needed. Resources like OMIM, PubMed, and ClinicalTrials.gov will provide the most up-to-date information on the syndrome and ongoing research.

Scientific Articles on PubMed

The Opitz GBBB syndrome is a rare condition that is cataloged on the online resource OMIM (Online Mendelian Inheritance in Man). It is a midline developmental disorder that affects various cells in the body.

Scientific research has identified the cause of this syndrome to be mutations or deletions in the SPECC1L gene. This gene is located on the Xp22 region of the X chromosome. Genetic testing can be done to confirm the diagnosis of Opitz GBBB syndrome.

Several clinical studies and research articles have been published on PubMed, providing valuable information about the clinical manifestations, inheritance patterns, and associated abnormalities of this syndrome. Some of these studies have focused on the genitourinary abnormalities, such as hypospadias and cryptorchidism, while others have explored the spectrum of clinical features.

These scientific articles help healthcare professionals, researchers, and advocates to better understand Opitz GBBB syndrome and provide support to patients and families affected by this condition. The information obtained from these studies can be used to improve the diagnosis, management, and treatment of patients with Opitz GBBB syndrome.

In addition to PubMed, other resources like ClinicalTrials.gov can provide information about ongoing clinical trials and research studies related to Opitz GBBB syndrome. These studies aim to further advance our understanding of the causes and potential treatments for this syndrome.

For more information about Opitz GBBB syndrome, it is recommended to refer to reputable resources and scientific articles available on PubMed and other reliable sources.

References:

  • Opitz JM, GBBB. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2019 Apr 25.
  • Opitz JM, et al. Opitz GBBB Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2005 Feb 10.

References

The following references provide more information on Opitz GBBB syndrome:

  • Ballabio A. Genetic causes of X-linked intellectual disability: Role of altered gene dosage and altered gene functions. Clin Genet. 2011 Sep;80(3):125-33. [PubMed

    PMID: 21777317]

  • Opitz JM, et al. The G Syndrome of Multiple Congenital Anomalies. Birth Defects Orig Art Ser. 1977;13(6B):iii-xix,1-780. [PubMed

    PMID: 332683]

  • Specc1l. [EB/OL]. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University; 2022 [cited 2022 Jun 9].

    Available from:

    https://www.omim.org/entry/300000

  • Opitz GBBB Syndrome Support Network. What is Opitz GBBB Syndrome? [Internet]. Opitz GBBB Syndrome Support Network; [cited 2022 Jun 9].

    Available from:

    http://opitzgbbbnetwork.org/about/about-opitz-gbbb-syndrome/

  • Opitz G/BBB Family Network. Types and clinical information [Internet]. Opitz G/BBB Family Network; [cited 2022 Jun 9].

    Available from:

    https://opitzgbbbnetwork.org/types-and-clinical-information/

  • OPITZ GBBB SYNDROME; OPITZ G/BBB SYNDROME. In: Genetic and Rare Diseases Information Center (GARD). Bethesda (MD): National Center for Advancing Translational Sciences (US); 2003 [cited

    2022 Jun 9]. Available from:

    https://rarediseases.info.nih.gov/diseases/5240

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