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Results 1 - 9 of 9 for Autosomal recessive nonsyndromic hearing loss 6
  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. BSND gene 
    ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This ... PubMed BARTTIN CLCNK- ...
    https://medlineplus.gov/genetics/gene/bsnd - Genetics
  3. TECTA gene 
    The TECTA gene provides instructions for making a protein called alpha-tectorin. This protein is found in the tectorial membrane, which is part of a snail- ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  4. 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
  5. CDH23 gene 
    ... Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal ... features of hearing loss patients with CDH23 mutations: a large cohort study. ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  6. STRC gene 
    ... high homology. J Mol Diagn. 2014 Nov;16(6):639-47. doi: 10.1016/j.jmoldx.2014.06.003. ... AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, ...
    https://medlineplus.gov/genetics/gene/strc - Genetics
  7. COL11A2 gene 
    ... Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug;290(4): ... Najmabadi H, Smith RJ. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  8. USH2A gene 
    ... mutations are the most common cause of the autosomal recessive form of retinitis pigmentosa, accounting for 10 to 15 percent of all cases. This form of the disorder is described as nonsyndromic, which means that it is not associated with ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  9. 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