title: Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
authors.forename: G
authors.initials: G
authors.lastname: McGillivray
authors.forename: R
authors.initials: R
authors.lastname: Savarirayan
authors.forename: T C
authors.initials: TC
authors.lastname: Cox
authors.forename: C
authors.initials: C
authors.lastname: Stojkoski
authors.forename: R
authors.initials: R
authors.lastname: McNeil
authors.forename: A
authors.initials: A
authors.lastname: Bankier
authors.forename: J F
authors.initials: JF
authors.lastname: Bateman
authors.forename: T
authors.initials: T
authors.lastname: Roscioli
authors.forename: R J M
authors.initials: RJ
authors.lastname: Gardner
authors.forename: S R
authors.initials: SR
authors.lastname: Lamandé
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D010375:Pedigree; D017434:Protein Structure, Tertiary / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000737:chemistry / Q000235:genetics*; D012886:Skull / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2