title: Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene.
abstract: Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies and prominent umbilical stump. There are few reports on the syndrome, and molecular analysis has revealed the involvement of two closely spaced mutations within the FGFR2 gene: c.1115C↷G (p.S372C) and c.1124C↷G (p.Y375C). We herein describe a new case of a c.1124C↷G mutation in a BSS patient.
authors.affiliation: ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Universidade Federal do Rio de Janeiro, Avenida Brigadeiro Trompowski s/n, Cidade Universitária, Rio de Janeiro, CEP 21944-970, Brazil.
authors.forename: Renata Fragelli
authors.initials: RF
authors.lastname: Fonseca
authors.forename: Marcelo Aguiar
authors.initials: MA
authors.lastname: Costa-Lima
authors.forename: Eliana Ternes
authors.initials: ET
authors.lastname: Pereira
authors.forename: Eduardo Enrique
authors.initials: EE
authors.lastname: Castilla
authors.forename: Iêda Maria
authors.initials: IM
authors.lastname: Orioli