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Results 1 - 3 of 3 for Thanatophoric "dysplasia," type 2
  1. Thanatophoric dysplasia 
    ... Registry: Thanatophoric dysplasia type 1 Genetic Testing Registry: Thanatophoric dysplasia, type 2 Thanatophoric dysplasia National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics
  2. FGFR3 gene 
    ... apoptosis. Exp Cell Res. 2005 Apr 1;304(2):417-31. doi: 10.1016/j.yexcr.2004.11.012. Epub 2004 Dec 16. Citation on PubMed Lievens PM, Liboi E. The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  3. Platyspondylic lethal skeletal dysplasia, Torrance type 
    ... type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. Citation on PubMed
    https://medlineplus.gov/...c-lethal-skeletal-dysplasia-torrance-type - Genetics