title: Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
abstract: Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump. Reported causes are an FGFR2 Tyr375Cys mutation in nine cases and an FGFR2 Ser372Cys mutation in one case. Here, we report on a second patient with the FGFR2 Ser372Cys mutation.
authors.affiliation: ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
authors.forename: Renata
authors.initials: R
authors.lastname: Fonseca
authors.forename: Marcelo A
authors.initials: MA
authors.lastname: Costa-Lima
authors.forename: Viviana
authors.initials: V
authors.lastname: Cosentino
authors.forename: Iêda M
authors.initials: IM
authors.lastname: Orioli
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D019943:Amino Acid Substitution; D001483:Base Sequence; D003398:Craniosynostoses / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012694:Serine / Q000235:genetics; D012868:Skin Abnormalities / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome
chemical_list: D012694:Serine; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2; D003545:Cysteine