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Results 1 - 6 of 6 for Stickler "syndrome," type 3
  1. ... 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 ...
  2. ... 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 ...
  3. ... 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
  4. ... 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, ...
  5. ... 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 ...
  6. ... 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 ...