Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome

Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most common type of autosomal-recessive syndromic deafness. In many patients with an EVA/PS phenotype, mutation screening of SLC26A4 fails to...

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Bibliografiska uppgifter
Huvudupphovsmän: Yang, Tao, Gurrola, Jose G., Wu, Hao, Chiu, Sui M., Wangemann, Philine, Snyder, Peter M., Smith, Richard J.H.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2009
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2681005/
https://ncbi.nlm.nih.gov/pubmed/19426954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.04.014
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