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Results 1 - 10 of 13 for Type 2 collagenopathy
  1. Platyspondylic dysplasia, Torrance type 
    ... type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. Citation on PubMed
    https://medlineplus.gov/.../platyspondylic-dysplasia-torrance-type - Genetics
  2. COL2A1 gene 
    ... type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb 15; ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. Spondyloperipheral dysplasia 
    ... type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb 15; ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  4. Spondyloepiphyseal dysplasia congenita 
    ... PubMed Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr. 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208. Citation on ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  5. Achondrogenesis 
    ... Mutation Update for COL2A1 Gene Variants Associated with Type II ... Am J Med Genet. 1986 Jun;24(2):273-88. doi: 10.1002/ajmg.1320240208. Citation ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  6. Kniest dysplasia 
    ... Francomano CA, Cohn DH. Small deletions in the type II collagen triple helix produce kniest dysplasia. Am J Med Genet. 1999 Jul 16;85(2):105-12. Citation on PubMed Yokoyama T, Nakatani ...
    https://medlineplus.gov/genetics/condition/kniest-dysplasia - Genetics
  7. Weissenbacher-Zweymüller syndrome 
    ... features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused by ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  8. Otospondylomegaepiphyseal dysplasia 
    ... features of this condition significantly overlap those 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
  9. Spondyloepiphyseal dysplasia with metatarsal shortening 
    ... of Czech dysplasia. Clin Dysmorphol. 2013 Apr;22(2):76-80. doi: 10.1097/MCD.0b013e32835fff39. Citation on PubMed Gregersen PA, Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25 [updated ...
    https://medlineplus.gov/...seal-dysplasia-with-metatarsal-shortening - Genetics
  10. Stickler syndrome 
    ... syndrome type 1 Genetic Testing Registry: Stickler syndrome type 2 Genetic Testing Registry: Stickler syndrome, type 4 Genetic Testing Registry: Stickler syndrome, type 5 ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
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