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Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation

Bi-allelic variations in the gap junction protein beta-2 (GJB2) gene cause up to 50% of cases of newborn hearing loss. Heterozygous pathogenic GJB2 variations are also fivefold overrepresented in idiopathic patient groups compared to the normal-hearing population. Whether hearing loss in this group...

詳細記述

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書誌詳細
出版年:Eur Arch Otorhinolaryngol
主要な著者: Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Frei, Klemens, Lucas, Trevor
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5591807/
https://ncbi.nlm.nih.gov/pubmed/28821934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00405-017-4699-0
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