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...
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| Egile Nagusiak: | , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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Frontiers Media S.A.
2025-07-01
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| Saila: | Frontiers in Pediatrics |
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| Sarrera elektronikoa: | https://www.frontiersin.org/articles/10.3389/fped.2025.1588675/full |
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