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Autosomal recessive nonsyndromic hearing loss 83
- ... 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 ... Bizhanova A, Kopp P. Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):83-90. doi: 10.1016/j.mce.2010.03. ...