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Results 1 - 9 of 9 for Autosomal recessive nonsyndromic hearing loss 21
  1. 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
  2. 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
  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. 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
  6. Stickler syndrome 
    ... Van de Heyning P, Usami S. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet. 2006 Sep;79(3):449-57. doi: 10.1086/506478. Epub 2006 Jun 26. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  7. 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
  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