[Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].

Guanzhuang Gao、Lijuan Cao、Ziqiang Yu、Minghua Jiang、Yue Han、Xiaochun Bai、Junhu Su、Changgeng Ruan

2023PubMedMedicine被引 2

摘要

Mutations of p.Asp1424Asn, p.Arg1933* and p.Arg702His/Cys in MYH9 gene are hotspot mutations for MYH9-RD patients, Compared with TD mutation group, patients of MD mutation group were presented with lower platelet count and higher risk of bleeding, as well as more severe clinical presentations including renal and hearing impairment and cataracts.

引用本文（GB/T 7714）

Guanzhuang Gao, Lijuan Cao, Ziqiang Yu, 等. [Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].[J]. PubMed, 2023.

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DOI：https://doi.org/10.3760/cma.j.cn112137-20230328-00496

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