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2015 | 1 |
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PubMed (cited) for id: 610212
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A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
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.
A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.
Tlili A, Männikkö M, Charfedine I, Lahmar I, Benzina Z, Ben Amor M, Driss N, Ala-Kokko L, Drira M, Masmoudi S, Ayadi H.
Tlili A, et al.
Hum Hered. 2005;60(3):123-8. doi: 10.1159/000088974. Epub 2005 Oct 18.
Hum Hered. 2005.
PMID: 16244493
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