title: Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: A L
authors.initials: AL
authors.lastname: Sertié
authors.forename: M
authors.initials: M
authors.lastname: Zatz
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D001938:Brazil; D002648:Child; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D017468:Receptors, Fibroblast Growth Factor