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Results 1 - 6 of 6 for "Deafness," autosomal dominant 12
  1. ... 101:221-54. doi: 10.1016/B978-0-12-387685-0.00006-8. Citation on PubMed Walker LA, Bourque P, Smith AM, Warman Chardon J. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive ...
  2. ... in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss ... with dominant progressive deafness (DFNA20/26). Am J Hum Genet. 2003 Nov; ...
  3. ... nonsyndromic hearing loss: DFNA8/12 and DFNB21.DFNA8/12 is inherited in an autosomal dominant pattern, which means one mutated copy of the ... Casavant TL, Smith RJ, Moreno-Pelayo MA. DFNA8/12 caused by TECTA mutations ... nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7): ...
  4. ... Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. Mol Vis. 2010 Jan 12;16:26-35. Citation on PubMed or Free ...
  5. ... a condition called optic atrophy type 1 and deafness, which results in both vision loss and hearing loss. OPA1 mutations can also cause a condition known as autosomal dominant optic atrophy (ADOA)-plus syndrome. ADOA-plus syndrome ...
  6. ... a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum ... T, Wu H. A dominant mutation in the stereocilia-expressing gene TBC1D24 is ...