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Stickler "syndrome," type 3
- ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 3 type IX collagen CO9A3_HUMAN collagen type IX alpha ...
- ... Snead MP. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Am J Hum Genet. 2000 Nov;67(5):1083-94. doi: 10.1016/S0002-9297(07)62938-3. Epub 2000 Sep 25. Citation on PubMed or ...
- ... 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
- ... syndrome (described below) and to a form of Stickler syndrome classified as type III. In some cases, it can be difficult ... OSMED (described above) and to a form of Stickler syndrome classified as type III.Like the other mutations that cause OSMED, ...
- ... percent of all cases of Stickler syndrome. When Stickler syndrome results from COL11A1 gene mutations, it is classified as type II. Signs and symptoms of this condition include ...
- ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition MedlinePlus Genetics provides information about Intervertebral disc disease More About This Health Condition alpha 2 type IX collagen CO9A2_HUMAN collagen IX, alpha-2 ...