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Autosomal recessive nonsyndromic hearing loss 29
- ... 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 ...
- ... the inner ear.DFNB2 is inherited in an autosomal recessive pattern, which means both ... hearing loss developed retinitis pigmentosa (a vision disorder ...
- ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More ... Tests of BSND PubMed BARTTIN CLCNK- ...
- ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. ... Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371- ...
- ... Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal ... features of hearing loss patients with CDH23 mutations: a large cohort study. ...
- ... these structures respond to sound waves, resulting in hearing loss. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for infertility in affected males. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ...
- ... 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
- ... this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...