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Results 1 - 10 of 14 for Type 2 collagenopathy
  1. Platyspondylic lethal skeletal 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/...c-lethal-skeletal-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. Hypochondrogenesis 
    ... 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/genetics/condition/hypochondrogenesis - 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 
    ... achondrogenesis, designated as type 1A, type 1B, and type 2. The types are distinguished by their signs and ... the groin (an inguinal hernia).Infants with achondrogenesis type 2, which is sometimes called the Langer-Saldino type, ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  6. 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
  7. 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
  8. 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
  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. In: ...
    https://medlineplus.gov/genetics/condition/czech-dysplasia - Genetics
  10. Spondyloperipheral dysplasia 
    ... A, Spranger J, Winterpacht A. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet. 1996 May 3;63(1):123-8. doi: 10.1002/(SICI)1096-8628(19960503)63:13.0.CO;2-P. Citation on PubMed Zankl A, Zabel B, ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
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