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Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G. Coucke PJ, et al. Among authors: ensink rj. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321. Hum Mol Genet. 1999. PMID: 10369879
DFNA2/KCNQ4 and its manifestations.
De Leenheer EM, Ensink RJ, Kunst HP, Marres HA, Talebizadeh Z, Declau F, Smith SD, Usami S, Van de Heyning PH, Van Camp G, Huygen PL, Cremers CW. De Leenheer EM, et al. Among authors: ensink rj. Adv Otorhinolaryngol. 2002;61:41-6. doi: 10.1159/000066802. Adv Otorhinolaryngol. 2002. PMID: 12408061 No abstract available.
Deafness linked to DFNA2: one locus but how many genes?
Van Hauwe P, Coucke PJ, Declau F, Kunst H, Ensink RJ, Marres HA, Cremers CW, Djelantik B, Smith SD, Kelley P, Van de Heyning PH, Van Camp G. Van Hauwe P, et al. Among authors: ensink rj. Nat Genet. 1999 Mar;21(3):263. doi: 10.1038/6778. Nat Genet. 1999. PMID: 10080176 No abstract available.
30 results