Pfeiffer syndrome is not caused by haploinsufficient mutations of FGFR2.
Johnson
D
D
Wilkie
A O
AO
D005091:Exons; D005530:Foot Deformities / Q000235:genetics; D006226:Hand Deformities / Q000235:genetics; D006801:Humans; D009154:Mutation; D017689:Polydactyly / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013577:Syndrome
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2