Article
Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.
American journal of medical genetics - 1 Nov 1992
Reardon W, Roberts S, Phelps P D, Thomas N S, Beck L, Issac R, Hughes H E
Abstract excerpt
A structural cochlear abnormality has been observed by high resolution CT scanning in some families where X-linked deafness is segregating. We now present evidence that the same abnormality is present in a deaf patient who has a deletion within Xq21. This observation provides phenotypic evidence that the genotypic basis of deafness is the same in both patient groups. It is also likely that the perilymphatic fluid...
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