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Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl(−)/I(−)/HCO(3)(−) exchanger. Pendrin’s critical transport substrates are thought to be I(−) in the thyroid gland and HCO(3)(−) in the inner ear. We...

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التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Choi, Byung Yoon, Stewart, Andrew K., Madeo, Anne C., Pryor, Shannon P., Lenhard, Suzanne, Kittles, Rick, Eisenman, David, Kim, H. Jeffrey, Niparko, John, Thomsen, James, Arnos, Kathleen S., Nance, Walter E., King, Kelly A., Zalewski, Christopher K., Brewer, Carmen C., Shawker, Thomas, Reynolds, James C., Butman, John A., Karniski, Lawrence P., Alper, Seth L., Griffith, Andrew J.
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	2009
الموضوعات:	Article
الوصول للمادة أونلاين:	https://ncbi.nlm.nih.gov/pmc/articles/PMC2663020/ https://ncbi.nlm.nih.gov/pubmed/19204907 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20884
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Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

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