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Results 1 - 10 of 10 for Stickler "syndrome," type 5
  1. Stickler syndrome 
    ... Registry: Stickler syndrome, type 4 Genetic Testing Registry: Stickler syndrome, type 5 Stickler syndrome National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  2. COL2A1 gene 
    ... 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) ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. Weissenbacher-Zweymüller syndrome 
    ... of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused by ... Genet A. 2005 Jan 1;132A(1):33-5. doi: 10.1002/ajmg.a.30371. Citation on ... heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet. 1998 Nov 2; ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  4. Otospondylomegaepiphyseal dysplasia 
    ... of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused by ...
    https://medlineplus.gov/.../otospondylomegaepiphyseal-dysplasia - Genetics
  5. COL11A2 gene 
    ... 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, ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  6. COL9A1 gene 
    ... 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, ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  7. COL9A3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  8. COL9A2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  9. COL11A1 gene 
    ... these changes impair the production or assembly of type XI collagen molecules. ... Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  10. Nonsyndromic hearing loss 
    ... others), Pendred syndrome (SLC26A4), Wolfram syndrome (WFS1), and Stickler syndrome (COL11A2). It is often unclear how mutations in ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics