title: FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome.
authors.forename: A
authors.initials: A
authors.lastname: Krepelová
authors.forename: A
authors.initials: A
authors.lastname: Baxová
authors.forename: P
authors.initials: P
authors.lastname: Calda
authors.forename: R
authors.initials: R
authors.lastname: Plavka
authors.forename: J
authors.initials: J
authors.lastname: Kapras
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D003398:Craniosynostoses / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013577:Syndrome
chemical_list: D017468:Receptors, Fibroblast Growth Factor