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Results 1 - 10 of 12 for Lethal skeletal dysplasia
  1. Thanatophoric dysplasia 
    Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics
  2. Platyspondylic dysplasia, Torrance type 
    ... type Platyspondylic dysplasia, type Torrance, COL2A1-related Platyspondylic lethal skeletal dysplasia, Torrance type PLSD-T Genetic Testing Registry: Platyspondylic ...
    https://medlineplus.gov/.../platyspondylic-dysplasia-torrance-type - Genetics
  3. Spondyloperipheral dysplasia 
    ... in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  4. COL2A1 gene 
    ... in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  5. TRIP11 gene 
    ... Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP- ...
    https://medlineplus.gov/genetics/gene/trip11 - Genetics
  6. Achondrogenesis 
    ... Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP- ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  7. Greenberg dysplasia 
    ... symptoms of the condition. Chondrodystrophy, hydropic and prenatally lethal type Greenberg skeletal dysplasia HEM dysplasia HEM skeletal dysplasia Hydrops - ectopic calcification - ...
    https://medlineplus.gov/genetics/condition/greenberg-dysplasia - Genetics
  8. FGFR3 gene 
    ... mutations in bladder cancer previously identified in non-lethal skeletal disorders. Eur J Hum Genet. 2002 Dec;10( ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  9. TRPV4 gene 
    ... Zankl A, Lamande SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular ... S, Superti-Furga A, Unger S. TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  10. Metatropic dysplasia 
    ... Zankl A, Lamande SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular ... Cohn DH. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A. 2010 May;152A( ...
    https://medlineplus.gov/genetics/condition/metatropic-dysplasia - Genetics
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