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A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
Laryngoscope. 2010 Dec;120(12):2489-93. doi: 10.1002/lary.21159.
Laryngoscope. 2010.
PMID: 21046548
Free PMC article.
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA.
Hildebrand MS, et al.
Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7.
Hum Mutat. 2011.
PMID: 21520338
Free PMC article.
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Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
Hildebrand MS, Tack D, McMordie SJ, DeLuca A, Hur IA, Nishimura C, Huygen P, Casavant TL, Smith RJ.
Hildebrand MS, et al.
Genet Med. 2008 Nov;10(11):797-804. doi: 10.1097/GIM.0b013e318187e106.
Genet Med. 2008.
PMID: 18941426
Free PMC article.
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