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...

Descripción completa

Detalles Bibliográficos

Autores principales:	Xiaoqiang Lian, Haixia Li, Jihong Hao, Haixin Li, Ling Xu, Shuxia Zhang, Li Cao, Ruimin Li
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2025-07-01
Colección:	Frontiers in Pediatrics
Materias:	inherited thrombocytopenia MYH9 related disease leukocyte inclusion giant platelets non-muscle myosin heavy chain II-A
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fped.2025.1588675/full
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!