title: Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.
authors.affiliation: Faculdade de Medicina da Universidade de São Paulo, Unidade de Genética do Instituto da Criança, São Paulo, Brazil.
authors.forename: Debora
authors.initials: D
authors.lastname: Bertola
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: Alexandre
authors.initials: A
authors.lastname: Pereira
authors.forename: Chong
authors.initials: C
authors.lastname: Kim
authors.forename: Tim
authors.initials: T
authors.lastname: Morgan
authors.forename: Stephen P
authors.initials: SP
authors.lastname: Robertson
mesh_terms: D000328:Adult; D005260:Female; D064448:Filamins / Q000235:genetics*; D005546:Forehead / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D011859:Radiography; D012008:Recurrence; D017422:Sequence Analysis, DNA; D035781:Siblings
chemical_list: C578663:FLNA protein, human; D064448:Filamins