title: De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Schramm
authors.forename: Markus
authors.initials: M
authors.lastname: Draaken
authors.forename: Enrika
authors.initials: E
authors.lastname: Bartels
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Boemers
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schmiedeke
authors.forename: Sabine
authors.initials: S
authors.lastname: Grasshoff-Derr
authors.forename: Stefanie
authors.initials: S
authors.lastname: Märzheuser
authors.forename: Stuart
authors.initials: S
authors.lastname: Hosie
authors.forename: Stefan
authors.initials: S
authors.lastname: Holland-Cunz
authors.forename: Friederike
authors.initials: F
authors.lastname: Baudisch
authors.forename: Lutz
authors.initials: L
authors.lastname: Priebe
authors.forename: Per
authors.initials: P
authors.lastname: Hoffmann
authors.forename: Alexander M
authors.initials: AM
authors.lastname: Zink
authors.forename: Hartmut
authors.initials: H
authors.lastname: Engels
authors.forename: Felix F
authors.initials: FF
authors.lastname: Brockschmidt
authors.forename: Stefan
authors.initials: S
authors.lastname: Aretz
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: Michael
authors.initials: M
authors.lastname: Ludwig
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
mesh_terms: D000071056:Anorectal Malformations; D001006:Anus, Imperforate / Q000235:genetics / Q000473:pathology; D002648:Child; D058674:Chromosome Duplication / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics