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Results 1 - 1 of 1 for Thanatophoric dysplasia type 1
  1. 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