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Results 1 - 10 of 14 for Autosomal recessive nonsyndromic hearing loss 9
  1. ... Nonsyndromic hearing loss and deafness ... DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A DEAFNESS, AUTOSOMAL ...
  2. ... 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: ...
  3. ... Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30. Citation on PubMed or ...
  4. ... three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet A. 2007 Jul 15;143A(14):1623-9. doi: 10.1002/ajmg.a.31718. Citation on ...
  5. ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. ... Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371- ...
  6. ... the inner ear.DFNB2 is inherited in an autosomal recessive pattern, which means both ... hearing loss developed retinitis pigmentosa (a vision disorder ...
  7. ... on PubMed Redfield S, Shearer AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, Feldman J, ...
  8. ... TP, Berson EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 ...
  9. ... 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 ...
  10. ... 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
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