Article
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.
Audiology & neuro-otology - 1 Jan 2010
Wu Chen-Chi, Lu Ying-Chang, Chen Pei-Jer, Yeh Po-Lin, Su Yi-Nin, Hwu Wuh-Liang, Hsu Chuan-Jen
Abstract excerpt
Recessive mutations in the SLC26A4 gene are responsible for nonsyndromic enlarged vestibular aqueduct (EVA) and Pendred syndrome. However, in some affected families, only 1 or 0 mutated allele can be identified, as well as no clear correlation between SLC26A4 genotypes and clinical phenotypes, hampering the accuracy of genetic counseling. To elucidate the genetic composition of nonsyndromic EVA and Pendred...
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