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Results 1 - 9 of 9 for Autosomal recessive nonsyndromic hearing loss 9
  1. GJB2 gene 
    ... accounts for about half of all cases of autosomal recessive nonsyndromic hearing loss. It is characterized by mild to profound hearing ... Smith RJH, Azaiez H, Booth K. GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul 20]. In: ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  2. COL11A2 gene 
    ... Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  3. TECTA gene 
    ... three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet A. 2007 Jul 15;143A(14):1623-9. doi: 10.1002/ajmg.a.31718. Citation on ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  4. STRC gene 
    The STRC gene provides instructions for making a protein called stereocilin. This protein is found in the inner ear and is involved in hearing.Stereocilin ...
    https://medlineplus.gov/genetics/gene/strc - Genetics
  5. GJB3 gene 
    ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. ... Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371- ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  6. MYO7A gene 
    ... the inner ear.DFNB2 is inherited in an autosomal recessive pattern, which means both ... hearing loss developed retinitis pigmentosa (a vision disorder ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
  7. USH2A gene 
    ... TP, Berson EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  8. SLC26A4 gene 
    ... gene mutations have been identified in people with nonsyndromic hearing loss, which is loss of hearing that is not ... Mutations in this gene cause a form of nonsyndromic hearing loss called DFNB4. This form of hearing loss can ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  9. GJA1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This Health Condition At least 76 ... K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics