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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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Bibliografiske detaljer
Udgivet i:Acta Otorhinolaryngol Ital
Main Authors: Canzi, P., Pecci, A., Manfrin, M., Rebecchi, E., Zaninetti, C., Bozzi, V., Benazzo, M.
Format: Artigo
Sprog:Inglês
Udgivet: Pacini Editore SRL 2016
Fag:
Online adgang: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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