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Thanatophoric dysplasia type 1
- ... Thanatophoric dwarfism Thanatophoric short stature Genetic Testing Registry: Thanatophoric dysplasia type 1 Genetic Testing Registry: Thanatophoric dysplasia, type 2 Thanatophoric ...
- ... 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. ...
- ... 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. ...