Article
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
Audiology & neuro-otology - 1 Jan 2010
Topsakal Vedat, Hilgert Nele, van Dinther Joost, Tranebjaerg Lisbeth, Rendtorff Nanna D, Zarowski Andrzej, Offeciers Erwin, Van Camp Guy, van de Heyning Paul
Abstract excerpt
Clinical and audiological examination was done in 2 Belgian families with autosomal dominant sensorineural hearing loss (SNHL) linked to DFNA22. Nineteen subjects in family 1 had mild to moderate SNHL starting in the third decade. The hearing loss was characterized by a flat audiogram affecting all tested frequencies with statistically significant progression. In family 2 eleven subjects were affected with mild...
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