Condition: Thanatophoric dysplasia, type 2


rs121913116 in FGFR3 gene and Thanatophoric dysplasia, type 2 PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

PMID 7773297 1995 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

PMID 8754806 1996 Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3).

PMID 12297284 2002 FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.