Genome-wide SNP Genotyping Identifies the Stereocilin (STRC) Gene as a Major Contributor to Pediatric Bilateral Sensorineural Hearing Impairment

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...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3264741/
https://ncbi.nlm.nih.gov/pubmed/22147502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34391
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