Novel compound heterozygous PIEZO1 variants in dehydrated hereditary stomatocytosis initially suspected as myelodysplastic syndromes: a case report

Novel compound heterozygous PIEZO1 variants in dehydrated hereditary stomatocytosis initially suspected as myelodysplastic syndromes: a case report

IntroductionDehydrated hereditary stomatocytosis (DHS) is a rare autosomal dominant congenital non-immune hemolytic anemia caused by pathogenic variants in the PIEZO1 gene. Its clinical presentation often overlaps with other hematological disorders, leading to diagnostic challenges and potential mis...

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Bibliographic Details
Main Authors: Yongcheng Sun, Tao Wang, Shuyan Wang, Yan Chen, Zhijuan Xu, Cong Shi, Zanzan Wang, Guifang Ouyang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Oncology
Subjects:
PIEZO1
compound heterozygous
allo-HSCT
DHS
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2025.1574518/full
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https://www.frontiersin.org/articles/10.3389/fonc.2025.1574518/full

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