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...

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Detalles Bibliográficos
Autores principales: Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Frei, Klemens, Lucas, Trevor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Otology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591807/
https://www.ncbi.nlm.nih.gov/pubmed/28821934
http://dx.doi.org/10.1007/s00405-017-4699-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591807/
https://www.ncbi.nlm.nih.gov/pubmed/28821934
http://dx.doi.org/10.1007/s00405-017-4699-0

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