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

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...

Full description

Bibliographic Details
Main Authors: Chuanhe Jiang, Hao Zhang, Chuxian Zhao, Luxiang Wang, Xiaoxia Hu, Zengkai Pan
Format: Article
Language:English
Published: Wolters Kluwer Health 2023-04-01
Series:Blood Science
Online Access:http://journals.lww.com/10.1097/BS9.0000000000000152

Internet

http://journals.lww.com/10.1097/BS9.0000000000000152

Similar Items