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Article

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

2 Jul 2009

Abstract excerpt

BACKGROUND: Hearing loss with enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by bi-allelic mutations of SLC26A4. However, many EVA patients have non-diagnostic SLC26A4 genotypes with only one or no detectable mutant alleles. METHODS AND RESULTS: In this study, the authors were unable to detect occult SLC26A4 mutations in EVA patients with non-diagnostic genotypes by...

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Share to Ear Surgery and Otitis Media
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Identifiers

PMID: 19578036
DOI: 10.1136/jmg.2009.067892

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