Article
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
Science (New York, N.Y.) - 3 Feb 1995
de Kok Y J, van der Maarel S M, Bitner-Glindzicz M, Huber I, Monaco A P, Malcolm S, Pembrey M E, Ropers H H, Cremers F P
Abstract excerpt
Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment. The underlying gene has been localized to a 500-kilobase segment of the Xq21 band. Here, it is reported that a candidate gene for this disorder, Brain 4 (POU3F4), which encodes a transcription factor with a POU domain, maps to the same interval. In five unrelated patients with DFN3 but not in 50 normal controls,...
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