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Myosin heavy chain-9-related disorders (MYH9-RD): a case report

Myosin heavy chain-9-related disorders (MYH9-RDs) are a group of autosomal-dominant disorders caused by mutations in the MYH9 gene. The features include congenital macrothrombocytopaenia, inclusion bodies in neutrophils and a variable risk of developing sensorineural deafness, progressive renal impa...

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Detalles Bibliográficos
Autores principales: Vassallo, Diana, Erekosima, Ibi, Kanigicherla, Durga, O'Riordan, Edmond, Uthappa, Puchimada, Chrysochou, Constantina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438408/
https://www.ncbi.nlm.nih.gov/pubmed/26015866
http://dx.doi.org/10.1093/ckj/sft094