Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions

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Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions

IntroductionMYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia, with a risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. Due to its presentation of isolated thrombocytopenia, it is freque...

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Bibliographic Details
Main Authors:	Xiaoqiang Lian, Haixia Li, Jihong Hao, Haixin Li, Ling Xu, Shuxia Zhang, Li Cao, Ruimin Li
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-07-01
Series:	Frontiers in Pediatrics
Subjects:	inherited thrombocytopenia MYH9 related disease leukocyte inclusion giant platelets non-muscle myosin heavy chain II-A
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2025.1588675/full
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