The homozygous p.V37I variant ofGJB2is associated with diverse hearing phenotypes
Author:
Affiliation:
1. Department of Otorhinolaryngology-Head and Neck Surgery; Xinhua Hospital
2. Ear Institute; Shanghai Jiaotong University; Shanghai China
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference8 articles.
1. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss;Kelley;Am J Hum Genet,1998
2. The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment;Li;PLoS One,2012
3. Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity;Kim;PLoS One,2013
4. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance;Pollak;Am J Med Genet A,2007
5. Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations;Gallant;Am J Med Genet A,2013
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