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Novel variant in MYH9 in a child with proteinuria and thrombocytopenia: a case report and literature review

There is a lack of awareness of the diagnosis and treatment of MYH9-related disorder (MYH9-RD), which is an autosomal dominant disease with heterogeneous clinical manifestations. We summarized the clinical phenotype and reported a novel variant in MYH9 in a child with focal segmental glomerulosclero...

Бүрэн тодорхойлолт

-д хадгалсан:
Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Dan-Feng Xie, Lin Zhu, Xiao-Meng Wang, Yun Li, Ping Zhou
Формат: Artigo
Хэл сонгох:Inglês
Хэвлэсэн: Frontiers Media S.A. 2025-05-01
Цуврал:Frontiers in Pediatrics
Нөхцлүүд:
Онлайн хандалт:https://www.frontiersin.org/articles/10.3389/fped.2025.1502727/full
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