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Clin Case Rep. 2013 Oct 01;1(1). doi: 10.1002/ccr3.11.

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

Clinical case reports

Hagit N Baris, Wai-Man Chan, Caroline Andrews, Doron M Behar, Diana J Donovan, Cynthia C Morton, Judith Ranells, Tuya Pal, Azra H Ligon, Elizabeth C Engle

Affiliations

  1. 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.
  2. 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.
  3. 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.
  4. The Recanati Genetic Institute, Beilinson Hospital, Rabin Medical Center, Petah Tikva, Israel.
  5. Department of Pathology, Brigham and Women's Hospital, Boston, MA USA.
  6. Harvard Medical School, Boston, MA 02115 USA ; Department of Pathology, Brigham and Women's Hospital, Boston, MA USA.
  7. Department of Pediatrics, University of South Florida, Tampa, FL 33606 USA.
  8. 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.
  9. 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.

PMID: 24416505 PMCID: PMC3885256 DOI: 10.1002/ccr3.11

[No abstract available.]

Keywords: 8q12 microduplication syndrome; DURS1; Duane retraction syndrome; copy number variation; cytogenetics

References

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