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Results 1 - 5 of 5 for Lethal skeletal dysplasia
  1. 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
  2. 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
  3. 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
  4. 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
  5. LMNA gene 
    ... in bone development and fat distribution as mandibuloacral dysplasia, although they are typically milder in APS.Mutations in the LMNA gene have also been identified in newborns with a disorder called lethal restrictive dermopathy. Infants with this disorder have tight, ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics