Identification of a <i>de novo MYH9</i> mutation in a Chinese family with MYH9-related disease
Our study suggested that a <i>de novo</i> missense mutation in <i>MYH9</i> may be causative to <i>MYH9</i>-RD. Furthermore, genetic sequencing is expected to soon become a standard component of the diagnostic evaluation for individuals with platelet disorders.
Authors
- Shiyu Bai (ORCID: https://orcid.org/0000-0003-0585-9159)
- Y Y Liu (ORCID: https://orcid.org/0000-0001-8514-5871)
- Qiang Feng (ORCID: https://orcid.org/0000-0002-4055-226X)
- Ruimin Cai
- Fei Li (ORCID: https://orcid.org/0000-0001-5977-6880)
- Yi Li (ORCID: https://orcid.org/0000-0002-4177-2758)
- Wenyang Wang
Institutions
- Qingdao University (CN)
- Taian City Central Hospital (CN)
Publication Details
- Journal
- Hematology
- Published
- 2025-07-20
- DOI
- https://doi.org/10.1080/16078454.2025.2532923
- Primary Topic
- Platelet Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00