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2015 | 1 |
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A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.
Hum Hered. 2005;60(3):123-8. doi: 10.1159/000088974. Epub 2005 Oct 18.
Hum Hered. 2005.
PMID: 16244493
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
Grati M, Chakchouk I, Ma Q, Bensaid M, Desmidt A, Turki N, Yan D, Baanannou A, Mittal R, Driss N, Blanton S, Farooq A, Lu Z, Liu XZ, Masmoudi S.
Grati M, et al.
Hum Mol Genet. 2015 May 1;24(9):2482-91. doi: 10.1093/hmg/ddv009. Epub 2015 Jan 18.
Hum Mol Genet. 2015.
PMID: 25601850
Free PMC article.
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