title: Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome.
authors.forename: F
authors.initials: F
authors.lastname: Bayrakli
authors.forename: K
authors.initials: K
authors.lastname: Bilguvar
authors.forename: D
authors.initials: D
authors.lastname: Ceyhan
authors.forename: A G
authors.initials: AG
authors.lastname: Ercan-Sencicek
authors.forename: T
authors.initials: T
authors.lastname: Cankaya
authors.forename: S
authors.initials: S
authors.lastname: Bayrakli
authors.forename: I
authors.initials: I
authors.lastname: Guney
authors.forename: S M
authors.initials: SM
authors.lastname: Mane
authors.forename: M W
authors.initials: MW
authors.lastname: State
authors.forename: M
authors.initials: M
authors.lastname: Gunel
mesh_terms: D000010:Abducens Nerve / Q000473:pathology; D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000235:genetics*; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics; D004370:Duane Retraction Syndrome / Q000150:complications* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D055815:Young Adult