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Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct or Pendred Syndrome
Audiology & Neuro-Otology, 08/03/09
Wu CC et al. – In most Taiwanese families nonsyndromic EVA or Pendred syndrome might not result from aberrance in the transcriptional control of SLC26A4 by FOXI1. Meanwhile, exploration of undetected mutations in the SLC26A4 noncoding regions revealed 9 divergent haplotypes among the 21 no–mutation–detected SLC26A4 alleles of the c.919–2A>G heterozygotes, indicating that there might be no common and predominant mutations in the SLC26A4 introns.
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SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct
The Laryngoscope, 12/10/09
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Journal of the Association for Research in Otolaryngology, 12/08/09
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Acta Oto-Laryngologica , 12/04/09
Today in Otology/Neurotology...keeping you current
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