Case report: Clinical characteristics and genetic analysis of a familial platelet disorder associated with RUNX1 gene mutation

Case report: Clinical characteristics and genetic analysis of a familial platelet disorder associated with RUNX1 gene mutation

ObjectiveTo explore the clinical and genetic mutation characteristics of familial platelet disorder with acute myeloid leukemia tendency (FPD/AML) caused by RUNX1 germline mutations.MethodsThe clinical data and gene mutation results of a child with FPD/AML and family members admitted to Changzhou Ch...

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Bibliographic Details
Main Authors: Hua Zhou, Jing Zhao, Xiaoyan Gu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Hematology
Subjects:
thrombocytopenia
RUNX1
FPD/AML
frameshift mutation
sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/frhem.2025.1608314/full
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