Article
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
American journal of medical genetics. Part A - 1 Feb 2012
Francey Lauren J, Conlin Laura K, Kadesch Hanna E, Clark Dinah, Berrodin Donna, Sun Yi, Glessner Joe, Hakonarson Hakon, Jalas Chaim, Landau Chaim, Spinner Nancy B, Kenna Margaret, Sagi Michal, Rehm Heidi L, Krantz Ian D
Abstract excerpt
Hearing loss is the most prevalent sensory perception deficit in humans, affecting 1/500 newborns, can be syndromic or nonsyndromic and is genetically heterogeneous. Nearly 80% of inherited nonsyndromic bilateral sensorineural hearing loss (NBSNHI) is autosomal recessive. Although many causal genes have been identified, most are minor contributors, except for GJB2, which accounts for nearly 50% of all recessive...
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