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Atypical patterns of segregation of familial enlargement of the vestibular aqueduct

OBJECTIVE: Hearing loss and enlargement of the 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...

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Publicado en:Laryngoscope
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: 2015
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4838554/
https://ncbi.nlm.nih.gov/pubmed/26485571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/lary.25737
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