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Results 1 - 5 of 5 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
  4. Dwarfism (National Library of Medicine)  
    People with dwarfism have short stature. This means that their height is under 4' 10" as an adult. They are usually of normal intelligence. Dwarfism most often ...
    https://medlineplus.gov/dwarfism.html - Health Topics
  5. Achondroplasia 
    ... Elsevier; 2020:chap 716. Krakow D. FGFR3 disorders: thanatophoric dysplasia, achondroplasia, and hypochondroplasia. In: Copel JA, D'Alton ...
    https://medlineplus.gov/ency/article/001577.htm - Medical Encyclopedia