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Hearing "loss," autosomal dominant 79
- ... 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
- ... Fabre A, Genevieve D, Touitou I. Confirmation of autosomal recessive inheritance ... J. 2000 Mar;79(3):178-82. Citation on PubMed Gregersen PA, ...
- ... dysplasia. COL2A1 Kniest dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... SCA36. NOP56 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... chromosome 7 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...