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Article

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

20 Jul 2005

Abstract excerpt

BACKGROUND: Allele variants of COL11A2, encoding collagen type XI alpha2, cause autosomal dominant non-syndromic hearing loss (ARNSHL) at the DFNA13 locus (MIM 601868) and various syndromes that include a deafness phenotype. OBJECTIVE: To describe a genome-wide scan carried out on a consanguineous Iranian family segregating ARNSHL. RESULTS: Genotyping data identified a novel locus for ARNSHL on chromosome 6p21.3,...

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Identifiers

PMID: 16033917
DOI: 10.1136/jmg.2005.032615

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Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locusPMID 16033917Read ↗

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