title: NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.
authors.affiliation: INSERM U393 and Département de Génétique Médicale, Hôpital Necker - Enfants Malades, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Borck
authors.forename: R
authors.initials: R
authors.lastname: Redon
authors.forename: D
authors.initials: D
authors.lastname: Sanlaville
authors.forename: M
authors.initials: M
authors.lastname: Rio
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: N P
authors.initials: NP
authors.lastname: Carter
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: L
authors.initials: L
authors.lastname: Colleaux
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D000293:Adolescent; D000328:Adult; D018797:Cell Cycle Proteins; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D020732:Cytogenetic Analysis; D003635:De Lange Syndrome / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009154:Mutation; D010290:Parents; D011506:Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins