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Results 1 - 10 of 10 for Type II Collagenopathies
  1. Spondyloperipheral dysplasia 
    ... Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Hum Mutat. 2016 Jan;37(1):7-15. ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  2. Spondyloepiphyseal dysplasia with metatarsal shortening 
    Spondyloepiphyseal dysplasia (SED) with metatarsal shortening (formerly called Czech dysplasia) is an inherited condition that affects joint function and bone development. ...
    https://medlineplus.gov/...seal-dysplasia-with-metatarsal-shortening - Genetics
  3. Kniest dysplasia 
    Kniest dysplasia is a skeletal disorder that is characterized by short stature, joint disease, and problems with vision and hearing. People with Kniest dysplasia ...
    https://medlineplus.gov/genetics/condition/kniest-dysplasia - Genetics
  4. COL2A1 gene 
    ... Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Hum Mutat. 2016 Jan;37(1):7-15. ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  5. Spondyloepiphyseal dysplasia congenita 
    ... PubMed Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr. 1994 ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  6. Spondyloepiphyseal dysplasia with marked metaphyseal changes 
    ... clinical and molecular spectrum of a very rare type II collagenopathy. Am J Med Genet A. 2020 Nov;182( ...
    https://medlineplus.gov/...dysplasia-with-marked-metaphyseal-changes - Genetics
  7. Achondrogenesis 
    ... Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Hum Mutat. 2016 Jan;37(1):7-15. ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  8. Platyspondylic dysplasia, Torrance type 
    ... 1(II) chain, which is a component of type II collagen. This type of collagen is found in ... development; most cartilage is later converted to bone. Type II collagen is essential for the normal growth and ...
    https://medlineplus.gov/.../platyspondylic-dysplasia-torrance-type - Genetics
  9. COL11A1 gene 
    ... width (diameter) of another type of collagen molecule, type II collagen. Type II collagen is an important component of the vitreous and cartilage. The arrangement and size of type II collagen fibrils is essential for the normal structure ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  10. Stickler syndrome 
    ... STL1 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA STICKLER SYNDROME, TYPE II; STL2 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR STICKLER ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics