title: Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Estaing, Clermont-Ferrand, France; ERTICa, EA 4677, Univ Clermont1, UFR Médecine, France.
authors.forename: Celine
authors.initials: C
authors.lastname: Pebrel-Richard
authors.forename: Charles
authors.initials: C
authors.lastname: Rouzade
authors.forename: Stephan
authors.initials: S
authors.lastname: Kemeny
authors.forename: Eleonore
authors.initials: E
authors.lastname: Eymard-Pierre
authors.forename: Mathilde
authors.initials: M
authors.lastname: Gay-Bellile
authors.forename: Laetitia
authors.initials: L
authors.lastname: Gouas
authors.forename: Andreï
authors.initials: A
authors.lastname: Tchirkov
authors.forename: Carole
authors.initials: C
authors.lastname: Goumy
authors.forename: Philippe
authors.initials: P
authors.lastname: Vago
mesh_terms: D002675:Child, Preschool; D058674:Chromosome Duplication; D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D006801:Humans; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype; D013577:Syndrome
keywords: 7p22.1 microduplication; ACTB; craniofacial dysmorphism; intellectual disability