Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2.
Ariga
H
H
Department of Pediatrics, Fukushima Medical University School of Medicine, Fukushima, Japan. ariga@fmu.ac.jp
Endo
Y
Y
Ujiie
N
N
Ishii
T
T
Ishibashi
N
N
Fujita
T
T
Suzuki
H
H
D000168:Acrocephalosyndactylia / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2