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Results 1 - 10 of 15 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. Connective Tissue Disorders (National Library of Medicine)  
    Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts ...
    https://medlineplus.gov/connectivetissuedisorders.html - Health Topics
  4. 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
  5. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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