A De Novol Splicing Mutation of Srp72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature-Reference-Cited by-同舟云学术

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A De Novol Splicing Mutation of Srp72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Published:2024 Issue: Volume: Page:
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Author:

Wang Xiangwen,Xiangwen Wang,Duo Zang,Wenjing Hao,Hui Hou

Publisher

Elsevier BV

Reference29 articles.

1. Inherited bone marrow failure in the pediatric patient;I Dokal;Blood,2022

2. Genetics and genomics of bone marrow failure syndrome;H Y Kim;Blood Res,2022

3. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients;O Bluteau;Blood,2018

4. Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist;J Li;Semin Diagn Pathol,2023

5. Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia;M Kirwan;Am J Hum Genet,2012

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