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Results 1 - 10 of 12 for Autosomal recessive nonsyndromic hearing loss 8
  1. GJB2 gene 
    ... hearing loss. Front Cell Neurosci. 2014 Oct 27;8:354. doi: 10.3389/fncel.2014.00354. eCollection 2014. Citation on PubMed or Free article on PubMed Central 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. Nonsyndromic hearing loss 
    ... P. The role of mitochondrial DNA mutations in hearing loss. Biochem Genet. 2013 Aug;51(7-8):588-602. doi: 10.1007/s10528-013-9589-6. Epub 2013 Apr 21. Citation on PubMed Duman D, Tekin M. Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed). ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - 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. 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
  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 
    ... on PubMed Redfield S, Shearer AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, Feldman J, ...
    https://medlineplus.gov/genetics/gene/strc - Genetics
  7. GJA1 gene 
    ... K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  8. Retinitis pigmentosa 
    ... nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.Less commonly, retinitis pigmentosa occurs ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  9. 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
  10. Perrault syndrome 
    ... this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in females with Perrault ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
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