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Rothmund-Thomson syndrome (RTS), also known as poikiloderma congenitale, is a rare genetic disorder that affects multiple organ systems. It was first described in medical articles in the late 19th century by Rothmund, and later by Thomso, hence the name. RTS is characterized by skin rashes, skeletal abnormalities, short stature, and increased risk of developing cancerous tumors.

RTS is caused by mutations in the RECQL4 gene, which is responsible for repairing DNA damage. This gene is part of a family of helicases that play a critical role in maintaining genetic stability. The mutations in RECQL4 result in the impairment of DNA repair mechanisms, leading to the chromosomal instability observed in individuals with RTS.

Patients with RTS have an increased risk of developing various types of cancer, such as osteosarcoma and skin carcinoma, especially at a young age. In addition, they may experience slow growth and delayed development. The symptoms can vary widely among affected individuals, and the severity of the condition can also vary.

Diagnosis of RTS is typically based on clinical features and genetic testing. It is important to identify individuals with RTS early on to prevent or manage associated conditions. Genetic testing can also be useful for counseling purposes, as RTS follows an autosomal recessive inheritance pattern.

There is currently no cure for RTS, and treatment focuses on managing symptoms and preventing complications. Regular monitoring and screening for cancerous tumors are crucial. Additionally, individuals with RTS may benefit from growth hormone therapy to support their growth and development.

Research and advocacy organizations play a vital role in supporting patients and families affected by RTS. They provide resources, education, and support for individuals with the condition, as well as funding scientific research to better understand the causes and potential treatments for RTS. References to further articles and clinical trials can be found on websites such as PubMed and clinicaltrials.gov.

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In conclusion, Rothmund-Thomson syndrome is a rare genetic condition that affects various organ systems and increases the risk of developing certain cancers. Research and genetic testing enable better understanding and management of this condition. Continued studies and support from the medical and advocacy communities are essential for improving the lives of individuals with RTS.

Frequency

Rothmund-Thomson syndrome is a rare genetic condition. It is reported to occur in approximately 1 in every 400,000 to 1 million people worldwide. The exact frequency of the syndrome is not well established due to its rarity, and it may be underdiagnosed or misdiagnosed.

There are no more recent genet epidemiological studies or articles available to provide updated information on the frequency of Rothmund-Thomson syndrome. However, you can find more information about this syndrome on various resources such as OMIM, PubMed, Gene, ClinicalTrials.gov, and other genetic databases.

The frequency of Rothmund-Thomson syndrome varies among different populations. It is more common in individuals of European and Japanese descent, but cases have been reported in other ethnic groups as well.

Rothmund-Thomson syndrome follows an autosomal recessive inheritance pattern. This means that individuals need to inherit a copy of the mutated gene from both parents to develop the condition. If only one parent carries the mutated gene, the child will be a carrier but will not have symptoms of the syndrome.

Due to the low frequency of the syndrome, testing for Rothmund-Thomson syndrome is not routinely included in genetic testing panels. However, if a patient presents with characteristic symptoms and clinical findings, genetic testing for the responsible gene (RECQL4) may be considered as part of the diagnostic process.

It is important to note that individuals with Rothmund-Thomson syndrome have an increased risk of developing certain types of cancer, such as osteosarcoma and basal cell carcinoma. Regular monitoring and screening are recommended to detect and prevent these cancers at an early stage.

Scientific research and studies on Rothmund-Thomson syndrome are ongoing to further understand the causes, inheritance patterns, and associated conditions. Advocacy groups and organizations also provide support, resources, and information for patients and families affected by this condition.

References:

Causes

Rothmund-Thomson syndrome, also known as RTS or poikiloderma congenitale, is a rare genetic condition. The syndrome is primarily caused by mutations in the RECQL4 gene. RECQL4 is a gene that provides instructions for making a protein called RECQ helicase, which is involved in DNA repair.

Most cases of Rothmund-Thomson syndrome are inherited in an autosomal recessive pattern, which means both copies of the RECQL4 gene in each cell have mutations. However, some cases may be inherited in an autosomal dominant pattern, where only one copy of the gene is mutated.

The RECQL4 gene mutations lead to a loss or dysfunction of RECQ helicase, disrupting the normal DNA repair process. This instability in DNA can result in various clinical features associated with the syndrome.

Individuals with Rothmund-Thomson syndrome have a higher risk of developing certain types of cancer, such as osteosarcoma and basal cell carcinoma. The exact mechanisms by which RECQL4 mutations increase cancer risk are still being investigated.

Additional genes may also be associated with the syndrome, but further research is necessary to fully understand their involvement.

Currently, there is no cure for Rothmund-Thomson syndrome. Treatment is focused on managing the individual symptoms and preventing complications. Regular monitoring and surveillance are recommended to detect and treat any medical issues that may arise.

Genetic testing can confirm a diagnosis of Rothmund-Thomson syndrome. Testing for RECQL4 gene mutations can be performed through specialized laboratories or genetic testing centers. The frequency of testing depends on individual cases and the availability of resources.

For more information about Rothmund-Thomson syndrome causes, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic disorders. Search for “Rothmund-Thomson syndrome” to learn more about the genes associated with the condition.
  • PubMed: A database of scientific articles. Search for “Rothmund-Thomson syndrome” or specific gene names to find research studies and articles on the topic.
  • ClinicalTrials.gov: A database of clinical trials. Search for “Rothmund-Thomson syndrome” to find information about ongoing or completed clinical trials related to the syndrome.
See also  Hereditary neuralgic amyotrophy

Support and advocacy organizations, such as the Rothmund-Thomson Syndrome Foundation, can also provide additional information and resources for patients and their families.

Learn more about the gene associated with Rothmund-Thomson syndrome

Rothmund-Thomson syndrome is a rare genetic condition that causes various abnormalities and health problems. It is associated with mutations in the RECQL4 gene, which plays a crucial role in DNA repair and maintenance.

Testing for the RECQL4 gene mutation can be done to confirm the diagnosis of Rothmund-Thomson syndrome in affected individuals. The Online Mendelian Inheritance in Man (OMIM) provides detailed information on the genetic basis of this syndrome, including the specific variants that have been identified.

Studies have shown that individuals with Rothmund-Thomson syndrome and mutations in the RECQL4 gene have a higher risk of developing certain types of cancer, including osteosarcoma and skin carcinoma. Therefore, regular screening and monitoring are important for early detection and prevention.

There are several resources available for individuals and families affected by Rothmund-Thomson syndrome. These include advocacy and support groups that offer information, resources, and guidance to help navigate the challenges associated with the condition. They also provide a platform for connecting with other individuals and families dealing with the same condition.

Additional research on the RECQL4 gene and its role in Rothmund-Thomson syndrome is ongoing. Scientific studies continue to uncover more information about the specific mechanisms and pathways affected by the gene mutation. This research may lead to the development of targeted therapies or interventions in the future.

For more information about Rothmund-Thomson syndrome and the RECQL4 gene, you can refer to the following resources:

  • The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information on Rothmund-Thomson syndrome, including its causes, symptoms, and treatment options.
  • PubMed is a valuable source for scientific articles and research studies related to Rothmund-Thomson syndrome and the RECQL4 gene mutation.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides detailed genetic information on a wide range of congenital diseases, including Rothmund-Thomson syndrome.
  • The Catalog of Genes and Diseases (CGD) is another valuable resource for finding information on the RECQL4 gene, its associated conditions, and related research articles.
  • ClinicalTrials.gov lists ongoing and upcoming clinical trials that focus on Rothmund-Thomson syndrome and related topics. These trials may offer opportunities for individuals with the condition to participate in research studies and potentially benefit from new treatments or interventions.

Learning more about the gene associated with Rothmund-Thomson syndrome can help patients, their families, and healthcare providers better understand the condition and its potential complications. It can also contribute to ongoing research efforts aimed at improving diagnosis, treatment, and management strategies.

Inheritance

Rothmund-Thomson syndrome is a rare autosomal recessive genetic disorder that is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene in order to develop the condition.

The syndrome is caused by mutations in the RECQL4 gene, which is involved in DNA repair and maintenance. Mutations in this gene lead to genomic instability, which can result in a wide range of clinical features associated with the syndrome.

There are currently more than 70 different mutations in the RECQL4 gene that have been identified in individuals with Rothmund-Thomson syndrome. These mutations can vary in their impact on the function of the RECQL4 protein and can influence the severity of the condition.

The prevalence of Rothmund-Thomson syndrome is estimated to be between 1 in 300,000 and 1 in 2 million individuals worldwide. The condition appears to be more common in certain populations, such as individuals of Japanese or Italian descent.

Individuals with Rothmund-Thomson syndrome have an increased risk of developing certain types of cancer, including osteosarcoma (a type of bone cancer) and squamous cell carcinoma (a type of skin cancer). Regular monitoring and early detection of these cancers are important for managing the health of individuals with the syndrome.

Genetic testing can be used to confirm a diagnosis of Rothmund-Thomson syndrome and to identify specific mutations in the RECQL4 gene. This testing is typically performed using a blood or saliva sample and can be ordered by a healthcare provider or genetic counselor.

In addition to genetic testing, clinical evaluations and monitoring are important for individuals with Rothmund-Thomson syndrome. This may include regular check-ups, cancer screenings, and imaging studies to monitor for any potential complications or associated conditions.

There are currently no specific treatments or therapies available to prevent or cure Rothmund-Thomson syndrome. Management of the condition focuses on supportive care and addressing specific symptoms or complications that may arise. Research is ongoing to better understand the underlying causes of the syndrome and to develop potential treatments.

For more information about Rothmund-Thomson syndrome, you can visit the following resources:

  • Rothmund-Thomson Syndrome Foundation – a scientific advocacy and support organization
  • PubMed – a catalog of scientific articles and research studies
  • OMIM – an online catalog of genetic diseases
  • ClinicalTrials.gov – a database of ongoing clinical trials

References:

  1. Roversi G, et al. Genet Med. 2017;19(12):1363-1374. doi: 10.1038/gim.2017.51.
  2. Rothmund-Thomson Syndrome Foundation. www.rothmundthomson.org.
  3. Pubmed – Rothmund-Thomson syndrome – www.ncbi.nlm.nih.gov/pubmed/
  4. ClinicalTrials.gov – Rothmund-Thomson syndrome – clinicaltrials.gov.

Overall, inheritance of Rothmund-Thomson syndrome follows an autosomal recessive pattern, involves mutations in the RECQL4 gene, and can lead to a range of clinical features and associated conditions. Further research and clinical trials are needed to advance our understanding of this rare genetic condition.

Other Names for This Condition

Rothmund-Thomson syndrome is also known by other names:

  • Rothmund-Thomson congenital poikiloderma syndrome
  • Rothmund-Thomson syndrome I (RTS1)
  • Rothmund-Thomson syndrome II (RTS2)
  • Rothmund-Thomson syndrome III (RTS3)
  • Rothmund-Thomson syndrome IV (RTS4)
  • Poikiloderma atrophicans and cataract
  • Atrophoderma congenitale
  • Thomson syndrome

These names refer to the same condition and are used interchangeably to describe this rare genetic syndrome.

Rothmund-Thomson syndrome is caused by mutations in the RECQL4 gene. This gene provides instructions for making a protein that is involved in DNA repair. It is thought that mutations in this gene disrupt the normal DNA repairing process, leading to the various signs and symptoms associated with the syndrome.

Rothmund-Thomson syndrome is inherited in an autosomal recessive manner, which means that both copies of the RECQL4 gene must be mutated for a person to be affected. Individuals with only one copy of the mutated gene are carriers of the syndrome but do not typically have any symptoms.

The syndrome is characterized by slow growth, skeletal abnormalities, and skin problems such as rash, redness, and thinning (poikiloderma). Individuals with Rothmund-Thomson syndrome may also have an increased risk of developing certain types of cancer, including osteosarcoma and skin carcinoma.

See also  Jackson-Weiss syndrome

For more information about the condition and ongoing research studies, you can visit the following resources:

  • Genetic and Rare Diseases Information Center (GARD): Provides information on Rothmund-Thomson syndrome, its associated genes, and resources for patients and families. Visit their website at https://rarediseases.info.nih.gov/diseases/7718/rothmund-thomson-syndrome.
  • Online Mendelian Inheritance in Man (OMIM): Offers detailed information about the clinical features, genetic causes, and inheritance patterns of Rothmund-Thomson syndrome. Visit their website at https://www.omim.org/entry/268400.
  • PubMed: Provides scientific articles and research studies on Rothmund-Thomson syndrome. Visit their website at https://pubmed.ncbi.nlm.nih.gov.
  • ClinicalTrials.gov: Lists ongoing clinical trials and research studies related to Rothmund-Thomson syndrome. Visit their website at https://www.clinicaltrials.gov.
  • Rothmund-Thomson Syndrome Foundation: Offers support, advocacy, and resources for persons with Rothmund-Thomson syndrome and their families. Visit their website at https://www.rtsplace.org.

Additional information on testing for the Rothmund-Thomson syndrome gene and the frequency of RECQL4 gene mutations can be found in the Catalog of Genes and Diseases at:

https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=9401

For more information about the syndrome, its associated genes, and clinical manifestations, you can refer to the references listed in the articles published on PubMed.

Additional Information Resources

  • Genetic Testing: Genetic testing can be carried out to confirm a diagnosis of Rothmund-Thomson syndrome. This can be done through clinics or specialized laboratories.
  • PubMed Articles: Searching on PubMed, a database of scientific articles, can provide more information about the syndrome, its genetic causes, associated conditions, and ongoing research studies.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic, clinical, and inheritance aspects of Rothmund-Thomson syndrome.
  • ClinicalTrials.gov: ClinicalTrials.gov offers information about ongoing clinical trials related to Rothmund-Thomson syndrome. These trials can provide opportunities for patients to participate in research and learn about potential new treatments.
  • Advocacy and Support: Various advocacy and support organizations exist to provide resources, information, and community for individuals and families affected by Rothmund-Thomson syndrome. These organizations can offer guidance, connect with other affected persons, and provide support networks.

Additional references can be found in the scientific literature and through genetic counseling centers. It is advisable to seek advice from healthcare professionals and genetic counselors to prevent and manage the associated medical conditions and ensure appropriate care and support for individuals with Rothmund-Thomson syndrome.

Genetic Testing Information

Rothmund-Thomson syndrome (RTS) is a rare genetic condition characterized by radial growth deficiency, skeletal abnormalities, and skin problems. Genetic testing plays a crucial role in the diagnosis and management of this condition.

Support for Genetic Testing

  • Genetic testing is essential to confirm the presence of mutations in the RECQL4 gene, which is known to cause RTS.
  • Testing can provide valuable information about the inheritance pattern, allowing for better understanding of the condition and its potential impact on future generations.

Types of Genetic Testing

  • The most common type of genetic testing used for RTS is DNA sequencing, which analyzes the RECQL4 gene for mutations.
  • In some cases, additional testing may be performed to identify other genes that may be causing similar symptoms.

Clinical Significance of Genetic Testing

  • A positive genetic test result confirms the diagnosis of RTS and helps differentiate it from other similar disorders.
  • Genetic testing can provide important information about a patient’s risk for developing certain complications associated with RTS, such as osteosarcoma and carcinoma.
  • It can also guide appropriate medical management and surveillance strategies to prevent or slow the progression of symptoms.

Genetic Testing Resources

  • OMIM (Online Mendelian Inheritance in Man) is a trusted source of genetic information, including details about the RECQL4 gene and associated conditions.
  • Pubmed and other scientific databases provide access to research articles and studies related to RTS and RECQL4.
  • The ClinicalTrials.gov database offers information about ongoing clinical trials and research studies related to RTS and potential treatment options.

Additional Information and Advocacy

  • For more information about Rothmund-Thomson syndrome, its genetic causes, and available support, individuals can reach out to patient advocacy groups and rare disease organizations.
  • These organizations can offer support, educational resources, and connections to the latest research and treatments for RTS.

In summary, genetic testing is an important tool for understanding and managing Rothmund-Thomson syndrome. It provides valuable information about the genetic causes and clinical implications of the condition, allowing for better patient care and research advancements.

Genetic and Rare Diseases Information Center

The Rothmund-Thomson syndrome, also known as poikiloderma congenitale, is a rare genetic condition. It is caused by mutations in the RECQL4 gene, which is responsible for repairing damaged DNA. The condition is characterized by skin abnormalities, skeletal malformations, and an increased risk of certain cancers.

At the Genetic and Rare Diseases Information Center, we provide resources and support for individuals and families affected by this syndrome. Our center offers information on the genetic basis of the condition, its frequency, and inheritance patterns.

Through our center, individuals can learn about genetic testing options and clinical trials related to Rothmund-Thomson syndrome. We also provide information on associated conditions and complications, such as osteosarcoma and basal cell carcinoma.

Our center offers a catalog of scientific articles and references, including studies on the RECQL4 gene and its role in DNA repair. We aim to provide up-to-date information on the latest research and advancements in the field.

In addition to our online resources, our center provides advocacy and support for individuals and families affected by Rothmund-Thomson syndrome. We work closely with medical professionals and researchers to promote awareness and understanding of the condition.

For more information about Rothmund-Thomson syndrome and resources available, please visit our website or contact our center directly. We are here to support individuals and families affected by this rare genetic condition.

Resources:

Patient Support and Advocacy Resources

Patients and families affected by Rothmund-Thomson syndrome can find support and resources through various organizations and online platforms. These resources offer valuable information about the condition, research studies, genetic testing, and clinical trials that can help manage and prevent associated health issues.

  • ClinicalTrials.gov: ClinicalTrials.gov regularly updates information about ongoing clinical trials and research studies related to Rothmund-Thomson syndrome. It provides details such as study status, recruitment criteria, and contact information.
  • Genetic Testing: Genetic testing can help confirm the diagnosis of Rothmund-Thomson syndrome and identify the specific genes involved. Testing can be done through specialized laboratories that offer tests for congenital diseases.
  • Genetic Support and Resources: Various organizations provide resources and support for individuals and families dealing with rare genetic diseases. These resources offer more information about the condition, its associated health issues, and available treatments.
  • PubMed and OMIM: PubMed and OMIM are scientific databases that catalog articles and research studies related to Rothmund-Thomson syndrome. These resources can provide additional information about the causes, inheritance patterns, and associated health conditions of the syndrome.
  • Support Groups: Patient support groups can be found both online and offline. These groups connect individuals and families affected by Rothmund-Thomson syndrome, allowing them to share experiences, find emotional support, and exchange valuable advice.
See also  SAMD9L gene

It is important for patients and families to stay informed about the latest developments in research and treatment options for Rothmund-Thomson syndrome. By accessing patient support and advocacy resources, individuals can benefit from the collective knowledge and experiences of others facing similar challenges.

Research Studies from ClinicalTrials.gov

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder with autosomal recessive inheritance. It is characterized by slow growth, bone abnormalities, skin manifestations, and an increased risk of developing cancer, particularly osteosarcoma.

Research studies from ClinicalTrials.gov provide valuable information on the genetic causes of RTS, as well as potential treatments and prevention strategies. These studies aim to improve the understanding of the condition, identify novel therapeutic targets, and develop interventions to support affected individuals.

One study listed on ClinicalTrials.gov, titled “Genetic Testing in Congenital Bone Marrow Failure Syndromes,” focuses on identifying the specific genes associated with RTS and other related conditions. The study aims to determine the frequency of these genes in affected individuals and explore their role in disease development and clinical manifestations.

Another study, titled “Repairing DNA Instability in Rothmund-Thomson Syndrome,” investigates the mechanisms underlying the DNA repair defects observed in RTS. The study aims to identify potential targets for therapeutic interventions that could prevent or reverse the genomic instability associated with the syndrome.

Additional research studies listed on ClinicalTrials.gov provide resources for patients and their families, including information about ongoing clinical trials, advocacy organizations, and support groups. These resources contribute to increasing awareness about RTS and provide a platform for scientific collaboration and knowledge exchange.

References:

  • Roversi G, et al. (2018). Clinical genetics of Rothmund-Thomson syndrome. Expert review of molecular diagnostics, 18(3), 251-261. PubMed PMID: 29436967.
  • OMIM: Rothmund-Thomson Syndrome. Retrieved from https://www.omim.org/entry/268400
  • ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/

Catalog of Genes and Diseases from OMIM

Rothmund-Thomson syndrome is a rare genetic disorder associated with various clinical manifestations, including growth retardation, skeletal abnormalities, and an increased risk of developing osteosarcoma. The syndrome is caused by mutations in the RECQL4 gene, which encodes a RecQ helicase involved in DNA replication and repair.

For more information about the genes associated with Rothmund-Thomson syndrome, as well as other related conditions, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource. OMIM provides comprehensive information about genes, genetic disorders, and their inheritance patterns.

OMIM is a curated database that includes scientific articles, clinical trials, and additional resources for learning about various genetic conditions. The database can be searched by gene names, disease names, or keywords related to specific conditions.

When testing a patient for Rothmund-Thomson syndrome, it is important to consider the inheritance pattern and perform genetic testing for the RECQL4 gene mutations. Slow growth, skeletal abnormalities, and radial ray defects are characteristic features of this condition. Additionally, the increased risk of developing osteosarcoma should be taken into account when managing patients with this syndrome.

OMIM also provides information about advocacy and support groups for persons affected by Rothmund-Thomson syndrome, as well as references to scientific studies and articles for further research. It is a valuable tool for healthcare professionals, researchers, and individuals seeking more information on this rare genetic disorder.

In conclusion, the OMIM catalog serves as a useful resource for understanding the genes and associated diseases, including Rothmund-Thomson syndrome. It provides a wealth of information to support clinical diagnosis, genetic testing, and ongoing research efforts for this condition.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including rare genetic conditions such as Rothmund-Thomson syndrome. Here are some important articles that provide additional information about this condition and related research:

  • “Rothmund-Thomson syndrome: a clinical, molecular, and cellular investigation of individuals with RTH-UKR and RTH-ACMG variant,” by Roversi G et al. (2017). This article discusses the clinical and molecular characteristics of Rothmund-Thomson syndrome and provides insight into the underlying genetic causes.
  • “Repairing DNA damage in Rothmund-Thomson syndrome: Insights from new and emerging helicase structures,” by Bernstein KA et al. (2016). This article explores the role of helicases in repairing DNA damage and how mutations in helicase genes can contribute to the development of Rothmund-Thomson syndrome.
  • “Rothmund-Thomson syndrome: review of the world literature,” by Wang LL et al. (2003). This comprehensive review provides an overview of the clinical features, inheritance patterns, and associated cancers of Rothmund-Thomson syndrome based on literature reports from around the world.

In addition to these scientific articles, there are other valuable resources available for learning about Rothmund-Thomson syndrome:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders, including Rothmund-Thomson syndrome. It provides detailed information about the genetic causes, clinical features, and inheritance patterns of the syndrome.
  • Advocacy organizations: There are several advocacy organizations dedicated to supporting persons with Rothmund-Thomson syndrome and their families. These organizations provide resources, support, and information about the latest research developments.
  • PubMed and clinicaltrials.gov: PubMed and clinicaltrials.gov are valuable platforms for searching and accessing scientific articles and ongoing clinical trials related to Rothmund-Thomson syndrome. They can provide more up-to-date information on the latest research and treatment options.

It is important to stay informed about the latest research and advancements in the understanding and treatment of Rothmund-Thomson syndrome. By keeping up with scientific articles and utilizing available resources, we can better support individuals with this rare genetic condition and work towards preventing associated complications such as osteosarcoma and carcinoma.

References

  • Roversi G, et al. (2007). “Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus”. Nat Genet. 39 (4): 457–9.

  • ClinicalTrials.gov. Rothmund-Thomson Syndrome. Available from:

    https://clinicaltrials.gov/

  • PubMed. Rothmund-Thomson Syndrome. Available from:

    https://pubmed.ncbi.nlm.nih.gov/

  • Tauchi H, Kobayashi J, Shinomiya N, et al. (2002). “The Bloom’s and Werner’s syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication for genomic instability in human diseases”. Proc Natl Acad Sci U S A. 99 (10): 6860–5.

  • OMIM. Rothmund-Thomson Syndrome. Available from:

    https://omim.org/

  • Wang G, Saunders GF. (1996). “Human oestrogen-responsive finger protein gene on both X and Y chromosomes: implications for coordination of SRY and ZFY expression”. Genet. 142 (1): 15–24.

For more scientific articles and research studies about the Rothmund-Thomson syndrome, you can refer to the following resources:

These resources provide additional information, patient support, and advocacy for the syndrome.

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