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Results 1 - 10 of 33 for "Deafness," autosomal dominant 4
  1. ... DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7 DEAFNESS, X-LINKED 4; DFNX4 DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10 DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11 DEAFNESS, ...
  2. ... Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. 1999 Jul;8( ...
  3. ... with each other, and neuron survival. At least four DNMT1 gene mutations have been identified in people with a nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN). Features of this disorder include ...
  4. ... conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color.
  5. ... of neurological disorders. Brain. 2015 Apr;138(Pt 4):845-61. doi: ... cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016 Sep 5;8( ...
  6. ... gamma 1 actin-like protein cytoskeletal gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma-actin Tests of ACTG1 ...
  7. ... 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: ...
  8. ... Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet. 1998 May;19(1):60-2. doi: 10.1038/ng0598-60. Erratum In: Nat Genet 1999 Apr;21(4):449. Citation on PubMed
  9. ... caused by abnormalities of the inner ear (sensorineural deafness). Autosomal dominant optic atrophy and cataract is one form of ... Organization for Rare Disorders (NORD) OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3 ... G. Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies. In Vivo. 2017 Jul-Aug;31(4):511-525. doi: 10.21873/invivo.11090. Citation ...
  10. ... bones, nerve tissue, and muscles seen in craniofacial-deafness-hand syndrome. PAX3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
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