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MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy

In this issue of ckj, Tabibzadeh et al. report one of the largest series of patients with MYH9 mutations and kidney disease. The cardinal manifestation of MYH9-related disease is thrombocytopenia with giant platelets. The population frequency of pathogenic MYH9 mutations may be at least 1 in 20 000....

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Detalles Bibliográficos
Autores principales: Fernandez-Prado, Raul, Carriazo-Julio, Sol Maria, Torra, Roser, Ortiz, Alberto, Perez-Gomez, María Vanessa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6671427/
https://www.ncbi.nlm.nih.gov/pubmed/31384439
http://dx.doi.org/10.1093/ckj/sfz103