title: 190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly.
authors.affiliation: Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France; Equipe "Génétique, Infertilité et Thérapeutique", Laboratoire AGIM, CNRS FRE3405, Grenoble, France; Université Joseph Fourier, Grenoble, France.
authors.forename: C
authors.initials: C
authors.lastname: Coutton
authors.forename: M
authors.initials: M
authors.lastname: Bidart
authors.forename: J
authors.initials: J
authors.lastname: Rendu
authors.forename: F
authors.initials: F
authors.lastname: Devillard
authors.forename: G
authors.initials: G
authors.lastname: Vieville
authors.forename: F
authors.initials: F
authors.lastname: Amblard
authors.forename: G
authors.initials: G
authors.lastname: Lopez
authors.forename: P-S
authors.initials: PS
authors.lastname: Jouk
authors.forename: V
authors.initials: V
authors.lastname: Satre
mesh_terms: D002675:Child, Preschool; D058674:Chromosome Duplication; D002878:Chromosomes, Human, Pair 1; D055028:Comparative Genomic Hybridization; D004268:DNA-Binding Proteins; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D008364:Mannosyltransferases / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C112476:ARID1A protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; D008364:Mannosyltransferases; C553105:PIGV protein, human