title: Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2.
authors.affiliation: Department of Pediatrics, Fukushima Medical University School of Medicine, Fukushima, Japan. ariga@fmu.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Ariga
authors.forename: Y
authors.initials: Y
authors.lastname: Endo
authors.forename: N
authors.initials: N
authors.lastname: Ujiie
authors.forename: T
authors.initials: T
authors.lastname: Ishii
authors.forename: N
authors.initials: N
authors.lastname: Ishibashi
authors.forename: T
authors.initials: T
authors.lastname: Fujita
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
mesh_terms: 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*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2