Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis.
Steinberger
D
D
Müller
U
U
Jünger
T H
TH
Howaldt
H P
HP
Christophis
P
P
D001483:Base Sequence; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D017354:Point Mutation; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013580:Synostosis / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D017931:DNA Primers; D017468:Receptors, Fibroblast Growth Factor; D004247:DNA; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2