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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Detalles Bibliográficos
Autores principales: Ren, Pingping, Chen, Hongjun, Wang, Yucheng, Wang, Cuili, Feng, Shi, Jiang, Hong, Chen, Jianghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8355614/
https://www.ncbi.nlm.nih.gov/pubmed/34394193
http://dx.doi.org/10.3389/fgene.2021.705832

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8355614/
https://www.ncbi.nlm.nih.gov/pubmed/34394193
http://dx.doi.org/10.3389/fgene.2021.705832

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