A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature

INTRODUCTION: MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, which is responsible for encoding nonmuscle myosin heavy chains IIA (NMMHCIIA). MYH9-RD is clinically characterized by congenital macrothrombocytopenia, granulocyte inclusions variably ass...

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Detalles Bibliográficos
Autores principales: Ai, Qi, Zhao, Linsheng, Yin, Jing, Jiang, Lihua, Jin, Qiuying, Hu, Xiaoli, Chen, Sen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
4800
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004752/
https://www.ncbi.nlm.nih.gov/pubmed/31977897
http://dx.doi.org/10.1097/MD.0000000000018887

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004752/
https://www.ncbi.nlm.nih.gov/pubmed/31977897
http://dx.doi.org/10.1097/MD.0000000000018887

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