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Research Article

Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

  1. Nadia A. Akawi1,
  2. Fuat E. Canpolat2,
  3. Susan M. White3,4,
  4. Josep Quilis-Esquerra5,
  5. Martin Morales Sanchez5,
  6. Maria José Gamundi5,
  7. Ganeshwaran H. Mochida6,
  8. Christopher A. Walsh6,
  9. Bassam R. Ali1,*,
  10. Lihadh Al-Gazali7,*

Article first published online: 18 FEB 2013

DOI: 10.1002/humu.22263

Issue

Human Mutation

Human Mutation

Volume 34, Issue 3, pages 498–505, March 2013

Additional Information

How to Cite

Akawi, N. A., Canpolat, F. E., White, S. M., Quilis-Esquerra, J., Morales Sanchez, M., Gamundi, M. J., Mochida, G. H., Walsh, C. A., Ali, B. R. and Al-Gazali, L. (2013), Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts. Hum. Mutat., 34: 498–505. doi: 10.1002/humu.22263

Author Information

  1. 1

    Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates

  2. 2

    Zekai Tahir Burak Maternity Hospital, Neonatal Intensive Care Unit, Ankara, Turkey

  3. 3

    Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Australia

  4. 4

    Department of Paediatrics, University of Melbourne, Australia

  5. 5

    Molecular Genetics Unit. Consorci Sanitari de Terrassa, Terrassa, Barcelona, Spain

  6. 6

    Division of Genetics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts

  7. 7

    Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates

*Correspondence to: Lihadh Al-Gazali, Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates. E-mail: l.algazali@uaeu.ac.ae or Bassam R. Ali, Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates. E-Mail: bassam.ali@uaeu.ac.ae, br_ali@hotmail.com

  1. Communicated by Segolène Ayme

  2. Contract grant sponsors: Dubai Harvard Foundation for Medical Research (DHFMR) (2008-04); United Arab Emirates PhD scholarships programme, National Institutes of Health (NINDS) (RO1 NS035129).

Publication History

  1. Issue published online: 18 FEB 2013
  2. Article first published online: 18 FEB 2013
  3. Accepted manuscript online: 15 DEC 2012 10:19PM EST
  4. Manuscript Accepted: 5 DEC 2012
  5. Manuscript Received: 27 JUN 2012

Funded by

  • Dubai Harvard Foundation for Medical Research (DHFMR). Grant Number: 2008-04
  • United Arab Emirates PhD scholarships programme, National Institutes of Health (NINDS). Grant Number: RO1 NS035129

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