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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Xiaoqiang Lian, Haixia Li, Jihong Hao, Haixin Li, Ling Xu, Shuxia Zhang, Li Cao, Ruimin Li
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Frontiers Media S.A. 2025-07-01
Sarja:	Frontiers in Pediatrics
Aiheet:	inherited thrombocytopenia MYH9 related disease leukocyte inclusion giant platelets non-muscle myosin heavy chain II-A
Linkit:	https://www.frontiersin.org/articles/10.3389/fped.2025.1588675/full
Tagit:	Lisää tagi Ei tageja, Lisää ensimmäinen tagi!