Results 1 -
10
of
39
for
"Deafness," autosomal dominant 10
- ... RECESSIVE 7; DFNB7 DEAFNESS, X-LINKED 4; DFNX4 DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10 DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11 DEAFNESS, X-LINKED 6; DFNX6 ...
- ... Strom TM, Mignot E. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/dds035. Epub ...
- ... Strom TM, Mignot E. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/dds035. Epub ...
- ... Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321. Citation on PubMed ...
- ... caused by abnormalities of the inner ear (sensorineural deafness). ... in 30,000 people worldwide, and approximately 1 in 10,000 people in Denmark. A form of optic ...
- ... Organization for Rare Disorders (NORD) KERATODERMA, ... Am J Med Genet A. 2010 Jul;152A(7):1798-802. doi: 10.1002/ajmg.a.33464. Citation on PubMed Caria ...
- ... Rare Disorders (NORD) KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL ... Expert Rev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276. Citation on PubMed Mazereeuw-Hautier J, ...
- ... cytoskeletal gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma-actin ... mutations (DFNA20/26) on actin function. J Biol Chem. 2006 Jul 21;281(29):20129-39. doi: 10.1074/jbc.M601514200. Epub 2006 May 10. Citation ...
- ... mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7. Citation ...
- ... encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4):370-3. doi: 10.1038/3845. Erratum In: Nat Genet 1999 Feb; ...