Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions
IntroductionMYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia, with a risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. Due to its presentation of isolated thrombocytopenia, it is freque...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-07-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1588675/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|