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Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients

MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. All consecutive patients enrolled...

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Detalles Bibliográficos
Autores principales: Canzi, P., Pecci, A., Manfrin, M., Rebecchi, E., Zaninetti, C., Bozzi, V., Benazzo, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SRL 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225798/
https://www.ncbi.nlm.nih.gov/pubmed/27958602
http://dx.doi.org/10.14639/0392-100X-702