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Autosomal recessive nonsyndromic hearing loss 30
- ... an autosomal dominant pattern. Mutations in at least 30 genes have been identified in people with autosomal dominant nonsyndromic hearing loss; mutations in some of these genes (including GJB2 and GJB6) can also cause autosomal recessive forms of the condition. Although no single gene ...
- ... more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More ... with the autosomal recessive form of the disorder. The most common of ...
- ... 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 females with Perrault ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... not show signs and symptoms of the condition. Autosomal recessive sensorineural hearing ... Bizhanova A, Kopp P. Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):83-90. doi: 10.1016/ ...