Article
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
The Laryngoscope - 1 Jul 2016
Muskett Julie A, Chattaraj Parna, Heneghan John F, Reimold Fabian R, Shmukler Boris E, Brewer Carmen C, King Kelly A, Zalewski Christopher K, Shawker Thomas H, Butman John A, Kenna Margaret A, Chien Wade W, Alper Seth L, Griffith Andrew J
Abstract excerpt
OBJECTIVES/HYPOTHESIS: Hearing loss and enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by mutant alleles of the SLC26A4 gene. In some other families, EVA does not segregate in a typical autosomal recessive pattern. The goal of this study was to characterize the SLC26A4 genotypes and phenotypes of extended families with atypical segregation of EVA. STUDY DESIGN:...
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