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Results 1 - 10 of 13 for Autosomal recessive nonsyndromic hearing loss 5
  1. GJB3 gene 
    ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. ... deafness. Clin Genet. 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004. ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  2. GJB2 gene 
    ... Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):452-7. doi: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  3. Nonsyndromic hearing loss 
    ... pattern. About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these ... for hearing.The most common cause of moderate autosomal recessive nonsyndromic hearing loss is mutations in the STRC gene. These mutations ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  4. STRC gene 
    ... 1):634. doi: 10.1038/s41598-021-04688-5. Citation 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
  5. 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
  6. TECTA gene 
    ... results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in ... recessive form of sensorineural pre-lingual non-syndromic deafness, ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  7. 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
  8. 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
  9. 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
  10. 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
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