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Article

Deletion of and Novel Missense Mutation in POU3F4 in 2 Families Segregating X-Linked Nonsyndromic Deafness

1 Dec 2005

Abstract excerpt

OBJECTIVE: To analyze the physical manifestations and genetic features of 2 families segregating X-linked deafness, which is most commonly reported to be caused by mutations of the POU domain gene POU3F4 at the DFN3 locus. DESIGN: Computed tomographic study of the temporal bone in probands from each family, followed by mutation screening and deletion mapping of POU3F4 in family members. SETTING: Two midwestern...

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Identifiers

PMID: 16365218
DOI: 10.1001/archotol.131.12.1057

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