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33
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"Deafness," autosomal dominant 4
- ... DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7 DEAFNESS, X-LINKED 4; DFNX4 DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10 DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11 DEAFNESS, ...
- ... Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. 1999 Jul;8( ...
- ... 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 ...
- ... conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color.
- ... of neurological disorders. Brain. 2015 Apr;138(Pt 4):845-61. doi: ... cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016 Sep 5;8( ...
- ... gamma 1 actin-like protein cytoskeletal gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma-actin Tests of ACTG1 ...
- ... 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: ...
- ... 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
- ... 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 ...
- ... 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 ...