Article
Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.
Archives of otolaryngology--head & neck surgery - 1 May 2000
Frydman M, Vreugde S, Nageris B I, Weiss S, Vahava O, Avraham K B
Abstract excerpt
OBJECTIVES: To describe the detailed auditory phenotype of DFNA15, genetic hearing loss associated with a mutation in the POU4F3 transcription factor, and to define genotype-phenotype correlations, namely, how specific mutations lead to particular clinical consequences. DESIGN: An analysis of clinical features of hearing-impaired members of an Israeli family, family H, with autosomal dominant-inherited hearing...
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