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Results 1 - 10 of 12 for "Deafness," autosomal dominant 27
  1. KCNQ4 gene 
    ... Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. 1999 ... CR, Yamoah EN. Cellular and molecular mechanisms of autosomal dominant form ... Chem. 2011 Jan 14;286(2):1517-27. doi: 10.1074/jbc.M110.179010. Epub 2010 ...
    https://medlineplus.gov/genetics/gene/kcnq4 - Genetics
  2. Autosomal dominant optic atrophy and cataract 
    ... caused by abnormalities of the inner ear (sensorineural deafness). Autosomal dominant optic atrophy and cataract is one form of ... 1007/s10048-014-0416-y. Epub 2014 Aug 27. Citation on PubMed
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  3. Craniometaphyseal dysplasia 
    ... on PubMed Reichenberger E, Chen IP. Craniometaphyseal Dysplasia, Autosomal Dominant. 2007 Aug 27 [updated 2020 Jun 11]. In: Adam MP, Feldman ...
    https://medlineplus.gov/.../condition/craniometaphyseal-dysplasia - Genetics
  4. Alport syndrome 
    ... COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have ... syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  5. GJB2 gene 
    ... Verselis VK. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  6. Vohwinkel syndrome 
    ... GJB2 LORICRIN ... Congenital deafness with keratopachydermia and constrictions of fingers and toes ...
    https://medlineplus.gov/genetics/condition/vohwinkel-syndrome - Genetics
  7. Hereditary cerebral amyloid angiopathy 
    ... CST3, or ITM2B gene is inherited in an autosomal dominant pattern, which means one copy of the altered ... are described as sporadic and are not inherited. Autosomal dominant cerebrovascular amyloidosis CAA, familial Cerebral amyloid angiopathy, familial ...
    https://medlineplus.gov/.../hereditary-cerebral-amyloid-angiopathy - Genetics
  8. Nearsightedness 
    ... in a single gene, it can follow an autosomal dominant, autosomal recessive, or X-linked inheritance pattern. In autosomal dominant inheritance, one copy of an altered gene in ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  9. Ehlers-Danlos syndrome 
    ... disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  10. Renal Tubular Acidosis From the National Institutes of Health (National Institute of Diabetes and Digestive and Kidney Diseases)  
    Learn about the different types of renal tubular acidosis (RTA), their causes, how RTA is diagnosed, and how it is treated. ... Renal tubular acidosis, RTA, ...
    https://www.niddk.nih.gov/.../kidney-disease/renal-tubular-acidosis - External Health Links
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