De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants

Rothmund-Thomson syndrome (RTS) is a rare autosomal-recessive disorder with clinical features consisting of rash, poikiloderma, sparse hair, short stature, juvenile cataracts, skeletal abnormalities, and cancer predisposition. Genetic studies involving detection of pathogenic RECQL4 variants provide...

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Detalles Bibliográficos
Autores principales: Jiang, Chuanhe, Zhang, Hao, Zhao, Chuxian, Wang, Luxiang, Hu, Xiaoxia, Pan, Zengkai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205365/
https://www.ncbi.nlm.nih.gov/pubmed/37228773
http://dx.doi.org/10.1097/BS9.0000000000000152

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205365/
https://www.ncbi.nlm.nih.gov/pubmed/37228773
http://dx.doi.org/10.1097/BS9.0000000000000152

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