Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)

MYH9-associated disorders represent rare group of autosomal dominant diseases and are caused by pathogenic mutations in the MYH9 gene. Clinically, they are represented by macro-platelet-thrombocytopenia, various degrees of renal dysfunction, hearing loss, and early onset cataracts. We describe the c...

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Detalles Bibliográficos
Autores principales: Granak, Karol, Brndiarova, Miroslava, Vnucak, Matej, Plamenova, Ivana, Lohajova, Regina Behulova, Valencikova, Romana, Jesenak, Milos, Dedinska, Ivana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Case and Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10186230/
https://www.ncbi.nlm.nih.gov/pubmed/37201161
http://dx.doi.org/10.1159/000529660

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