A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

BACKGROUND: Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of the SLC26A4 gene are often detected in Caucasians with EVA. Approximately one-fourth of patients with EVA...

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Udgivet i:J Med Genet
Main Authors: Chattaraj, Parna, Munjal, Tina, Honda, Keiji, Rendtorff, Nanna D, Ratay, Jessica S, Muskett, Julie A, Risso, Davide S, Roux, Isabelle, Gertz, E Michael, Schäffer, Alejandro A, Friedman, Thomas B, Morell, Robert J, Tranebjærg, Lisbeth, Griffith, Andrew J
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5880640/
https://ncbi.nlm.nih.gov/pubmed/28780564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-104721
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