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Results 1 - 8 of 8 for Stickler "syndrome," type 4
  1. ... Registry: Stickler syndrome type 2 Genetic Testing Registry: Stickler syndrome, type 4 Genetic Testing Registry: Stickler syndrome, type 5 Stickler syndrome National Organization for ...
  2. ... 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 3 collagen, type IX, alpha 3 DJ885L7.4.1 EDM3 FLJ90759 IDD Tests of COL9A3 PubMed ...
  3. ... 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, ...
  4. ... back of the eye (retinal detachment). This ocular type of Stickler syndrome is caused by variants in a particular region ... Snead MP. Variation in the vitreous phenotype of Stickler syndrome can be caused ... in the X position of the type II collagen Gly-X-Y triple helix. Am ...
  5. ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 1 type IX collagen cartilage-specific short collagen collagen IX, ...
  6. ... bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Citation on ...
  7. ... 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 ...
  8. ... others), Pendred syndrome (SLC26A4), Wolfram syndrome (WFS1), and Stickler syndrome (COL11A2). It is often unclear how mutations in ...