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Results 1 - 10 of 14 for Autosomal recessive nonsyndromic hearing loss 6
  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. 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
  3. 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
  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. TECTA gene 
    ... TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. ... three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  8. 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
  9. Retinitis pigmentosa 
    ... 10 to 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought to cause the X-linked ... Mutations in known genes account for 58% of autosomal dominant retinitis ... 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - 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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