Article
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
JAMA otolaryngology-- head & neck surgery - 1 Sept 2013
Chattaraj Parna, Reimold Fabian R, Muskett Julie A, Shmukler Boris E, Chien Wade W, Madeo Anne C, Pryor Shannon P, Zalewski Christopher K, Butman John A, Brewer Carmen C, Kenna Margaret A, Alper Seth L, Griffith Andrew J
Abstract excerpt
IMPORTANCE: Approximately one-half of all subjects with unilateral or bilateral hearing loss with enlargement of the vestibular aqueduct (EVA) will have SLC26A4 gene mutations. The number (0, 1, or 2) of mutant alleles of SLC26A4 detected in an individual subject with EVA is each associated with a distinct combination of diagnostic and prognostic information as well as probability of recurrence of EVA in...
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