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PubMed for id: 343162
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A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.
Eur J Med Genet. 2011 Sep-Oct;54(5):e484-8. doi: 10.1016/j.ejmg.2011.06.001. Epub 2011 Jun 15.
Eur J Med Genet. 2011.
PMID: 21700001
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.
Yan D, Ke X, Blanton SH, Ouyang XM, Pandya A, Du LL, Nance WE, Liu XZ.
Yan D, et al.
J Med Genet. 2006 Feb;43(2):170-4. doi: 10.1136/jmg.2005.034710. Epub 2005 Jun 15.
J Med Genet. 2006.
PMID: 15958501
Free PMC article.
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A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.
Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM.
Ansar M, et al.
Eur J Hum Genet. 2003 Jan;11(1):77-80. doi: 10.1038/sj.ejhg.5200905.
Eur J Hum Genet. 2003.
PMID: 12529709
Free PMC article.
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A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM.
Salam AA, et al.
Am J Hum Genet. 2000 Jun;66(6):1984-8. doi: 10.1086/302931. Epub 2000 Apr 24.
Am J Hum Genet. 2000.
PMID: 10777717
Free PMC article.
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