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Results 1 - 10 of 10 for Autosomal recessive nonsyndromic hearing loss 20
  1. ... Smith RJH, Azaiez H, Booth K. GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
  2. ... mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries one copy of the mutated gene but does not have hearing loss.Another 20 to 25 percent of nonsyndromic hearing loss has an autosomal dominant pattern of ...
  3. ... Najmabadi H, Smith RJ. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 Oct;42(10):e61. doi: 10.1136/jmg.2005.032615. Epub 2005 Jul 20. Citation on PubMed or Free article on PubMed ...
  4. ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This ... PubMed BARTTIN CLCNK- ...
  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. ... more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More ... with the autosomal recessive form of the disorder. The most common of ...
  7. ... 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
  8. ... 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 ...
  9. ... 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 ...
  10. ... 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 ...