Article
A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.
Human molecular genetics - 1 Sept 1996
del Castillo I, Villamar M, Sarduy M, Romero L, Herraiz C, Hernández F J, Rodríguez M, Borrás I, Montero A, Bellón J, Tapia M C, Moreno F
Abstract excerpt
Non-syndromic X-linked deafness is highly heterogeneous. At least five different clinical forms have been described, but only two loci have been mapped. Here we report a Spanish family affected by a previously undescribed X-linked form of hearing impairment. Deafness is non-syndromic, sensorineural, and progressive. In affected males, the auditory impairment is first detected at school age, affecting mainly the...
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