Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy

Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy

MYH9-related disease or disorder (MYH9-RD) is an autosomal dominant disease caused by mutations in the MYH9 gene. Mutations in this gene initially affect the hemic system, and other manifestations may evolve with age. Here, we report the case of a 46-year-old Chinese woman with MYH9-RD who was prima...

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Bibliographic Details
Main Authors: Pingping Ren, Hongjun Chen, Yucheng Wang, Cuili Wang, Shi Feng, Hong Jiang, Jianghua Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
MYH9-related disease
exon mutation
nephropathy
thrombocytopenia
autosomal dominant disease
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.705832/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.705832/full

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