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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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Detalhes bibliográficos
Publicado no:Acta Otorhinolaryngol Ital
Main Authors: Canzi, P., Pecci, A., Manfrin, M., Rebecchi, E., Zaninetti, C., Bozzi, V., Benazzo, M.
Formato: Artigo
Idioma:Inglês
Publicado em: Pacini Editore SRL 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5225798/
https://ncbi.nlm.nih.gov/pubmed/27958602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14639/0392-100X-702
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