Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease

MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approxi...

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Опубликовано в: :J Bras Nefrol
Главные авторы: Sevignani, Gabriela, Pavanelli, Giovana Memari, Milano, Sibele Sauzem, Ferronato, Bianca Ramos, Pachaly, Maria Aparecida, II Cheong, Hae, de Carvalho, Mauricio, Barreto, Fellype Carvalho
Формат: Artigo
Язык:Inglês
Опубликовано: Sociedade Brasileira de Nefrologia 2018
Предметы:
Case Reports
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6533988/
https://ncbi.nlm.nih.gov/pubmed/29782633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/2175-8239-JBN-3879
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