Article
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.
American journal of medical genetics. Part A - 1 Sept 2013
Gallant Emily, Francey Lauren, Tsai Ellen A, Berman Micah, Zhao Yaru, Fetting Heather, Kaur Maninder, Deardorff Matthew A, Wilkens Alisha, Clark Dinah, Hakonarson Hakon, Rehm Heidi L, Krantz Ian D
Abstract excerpt
Hearing impairment affects 1 in 650 newborns, making it the most common congenital sensory impairment. Autosomal recessive nonsyndromic sensorineural hearing impairment (ARNSHI) comprises 80% of familial hearing impairment cases. Mutations in GJB2 account for a significant number of ARNSHI (and up to 50% of documented recessive (e.g., more than 1 affected sibling) hearing impairment in some populations)....
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