title: Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.
authors.affiliation: Program in Genomics, Boston Children's Hospital, Boston, MA 02115 USA ; The Recanati Genetic Institute, Beilinson Hospital, Rabin Medical Center, Petah Tikva, Israel ; Sackler school of Medicine, Tel Aviv University, Israel.
authors.forename: Hagit N
authors.initials: HN
authors.lastname: Baris
authors.affiliation: Program in Genomics, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Medicine (Genetics), Boston Children's Hospital, Boston, MA 02115 USA ; Department of Neurology, Boston Children's Hospital, Boston, MA 02115 USA ; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115 USA ; Harvard Medical School, Boston, MA 02115 USA ; Howard Hughes Medical Institute, Chevy Chase, MD 20815 USA.
authors.forename: Wai-Man
authors.initials: WM
authors.lastname: Chan
authors.affiliation: Program in Genomics, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Medicine (Genetics), Boston Children's Hospital, Boston, MA 02115 USA ; Department of Neurology, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115 USA ; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115 USA ; Harvard Medical School, Boston, MA 02115 USA ; Howard Hughes Medical Institute, Chevy Chase, MD 20815 USA.
authors.forename: Caroline
authors.initials: C
authors.lastname: Andrews
authors.affiliation: The Recanati Genetic Institute, Beilinson Hospital, Rabin Medical Center, Petah Tikva, Israel.
authors.forename: Doron M
authors.initials: DM
authors.lastname: Behar
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, MA USA.
authors.forename: Diana J
authors.initials: DJ
authors.lastname: Donovan
authors.affiliation: Harvard Medical School, Boston, MA 02115 USA ; Department of Pathology, Brigham and Women's Hospital, Boston, MA USA.
authors.forename: Cynthia C
authors.initials: CC
authors.lastname: Morton
authors.affiliation: Department of Pediatrics, University of South Florida, Tampa, FL 33606 USA.
authors.forename: Judith
authors.initials: J
authors.lastname: Ranells
authors.affiliation: H.Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612 USA ; The University of South Florida, College of Medicine, Department of Oncologic Sciences, Tampa, FL 33612 USA.
authors.forename: Tuya
authors.initials: T
authors.lastname: Pal
authors.affiliation: Harvard Medical School, Boston, MA 02115 USA ; Department of Pathology, Brigham and Women's Hospital, Boston, MA USA.
authors.forename: Azra H
authors.initials: AH
authors.lastname: Ligon
authors.affiliation: Program in Genomics, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Medicine (Genetics), Boston Children's Hospital, Boston, MA 02115 USA ; Department of Neurology, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115 USA ; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115 USA ; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115 USA ; Harvard Medical School, Boston, MA 02115 USA ; Howard Hughes Medical Institute, Chevy Chase, MD 20815 USA.
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Engle
keywords: 8q12 microduplication syndrome; DURS1; Duane retraction syndrome; copy number variation; cytogenetics