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