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Results 1 - 10 of 15 for Lethal skeletal dysplasia
  1. Platyspondylic lethal skeletal dysplasia, Torrance type 
    Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped ...
    https://medlineplus.gov/...c-lethal-skeletal-dysplasia-torrance-type - Genetics
  2. 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
  3. COL2A1 gene 
    ... gene have been identified in people with platyspondylic lethal skeletal dysplasia, Torrance type. This severe disorder of bone growth ... lower back (lordosis).The variants associated with platyspondylic lethal skeletal dysplasia, Torrance type occur in a region of the ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. 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
  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. 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. 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. 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
  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. 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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