title: Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
authors.affiliation: Department of Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy. limongelligiuseppe@libero.it
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Limongelli
authors.forename: Silvia
authors.initials: S
authors.lastname: Russo
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Maura
authors.initials: M
authors.lastname: Masciadri
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pacileo
authors.forename: Fiorella
authors.initials: F
authors.lastname: Fratta
authors.forename: Francesca
authors.initials: F
authors.lastname: Martone
authors.forename: Valeria
authors.initials: V
authors.lastname: Maddaloni
authors.forename: Raffaella
authors.initials: R
authors.lastname: D'Alessandro
authors.forename: Paolo
authors.initials: P
authors.lastname: Calabro
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Russo
authors.forename: Raffaele
authors.initials: R
authors.lastname: Calabro
authors.forename: Lidia
authors.initials: L
authors.lastname: Larizza
mesh_terms: D000595:Amino Acid Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D003635:De Lange Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D000098550:Structural Maintenance of Chromosome Protein 1
chemical_list: D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D000098550:Structural Maintenance of Chromosome Protein 1