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Results 1 - 5 of 5 for Thanatophoric dysplasia type 1
  1. Thanatophoric dysplasia 
    ... Thanatophoric dwarfism Thanatophoric short stature Genetic Testing Registry: Thanatophoric dysplasia type 1 Genetic Testing Registry: Thanatophoric dysplasia, type 2 Thanatophoric ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics
  2. FGFR3 gene 
    ... Citation on PubMed Lievens PM, Liboi E. The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum. J Biol Chem. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  3. Platyspondylic lethal skeletal dysplasia, Torrance type 
    ... of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet. 2004 Jan;41(1):75-9. doi: 10.1136/jmg.2003.013722. ... 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. ...
    https://medlineplus.gov/...c-lethal-skeletal-dysplasia-torrance-type - Genetics
  4. Dwarfism (National Library of Medicine)  
    ... can cause dwarfism. Achondroplasia is the most common type of dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 ...
    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