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Vision science
Original article
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

Authors

  • Vincent José Soler Duke Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USAEA-4555 Genetics of refractive disorders and developmental defects of the Eye, Centre de Physiopathologie de Toulouse Purpan, Toulouse III Paul-Sabatier University, Toulouse, France PubMed articlesGoogle scholar articles
  • Khanh-Nhat Tran-Viet Duke Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA PubMed articlesGoogle scholar articles
  • Stéphane D Galiacy EA-4555 Genetics of refractive disorders and developmental defects of the Eye, Centre de Physiopathologie de Toulouse Purpan, Toulouse III Paul-Sabatier University, Toulouse, France PubMed articlesGoogle scholar articles
  • Vachiranee Limviphuvadh Bioinformatics Institute, Agency for Science Technology and Research, Singapore, Singapore PubMed articlesGoogle scholar articles
  • Thomas Patrick Klemm Duke-National University of Singapore Graduate Medical School, Singapore, Singapore PubMed articlesGoogle scholar articles
  • Elizabeth St Germain Duke Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA PubMed articlesGoogle scholar articles
  • Pierre R Fournié EA-4555 Genetics of refractive disorders and developmental defects of the Eye, Centre de Physiopathologie de Toulouse Purpan, Toulouse III Paul-Sabatier University, Toulouse, FranceOphthalmology Department, Purpan Hospital, Toulouse, France PubMed articlesGoogle scholar articles
  • Céline Guillaud EA-4555 Genetics of refractive disorders and developmental defects of the Eye, Centre de Physiopathologie de Toulouse Purpan, Toulouse III Paul-Sabatier University, Toulouse, FranceOphthalmology Department, Purpan Hospital, Toulouse, France PubMed articlesGoogle scholar articles
  • Sebastian Maurer-Stroh Bioinformatics Institute, Agency for Science Technology and Research, Singapore, SingaporeSchool of Biological Sciences, Nanyang Technological University, Singapore, Singapore PubMed articlesGoogle scholar articles
  • Felicia Hawthorne Duke Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA PubMed articlesGoogle scholar articles
  • Cyrielle Suarez EA-4555 Genetics of refractive disorders and developmental defects of the Eye, Centre de Physiopathologie de Toulouse Purpan, Toulouse III Paul-Sabatier University, Toulouse, FranceOphthalmology Department, Purpan Hospital, Toulouse, France PubMed articlesGoogle scholar articles
  • Bernadette Kantelip Service d'Anatomie Pathologique, Centre Hospitalier Universitaire de Besançon, Besançon, France PubMed articlesGoogle scholar articles
  • Natalie A Afshari Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA PubMed articlesGoogle scholar articles
  • Isabelle Creveaux Laboratoire de biochimie médicale et de biologie moléculaire, Faculté de médecine de Clermont-Ferrand, Clermont-Ferrand, France PubMed articlesGoogle scholar articles
  • Xiaoyan Luo Duke Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA PubMed articlesGoogle scholar articles
  • Weihua Meng EA-4555 Genetics of refractive disorders and developmental defects of the Eye, Centre de Physiopathologie de Toulouse Purpan, Toulouse III Paul-Sabatier University, Toulouse, France PubMed articlesGoogle scholar articles
  • Patrick Calvas EA-4555 Genetics of refractive disorders and developmental defects of the Eye, Centre de Physiopathologie de Toulouse Purpan, Toulouse III Paul-Sabatier University, Toulouse, France PubMed articlesGoogle scholar articles
  • Myriam Cassagne EA-4555 Genetics of refractive disorders and developmental defects of the Eye, Centre de Physiopathologie de Toulouse Purpan, Toulouse III Paul-Sabatier University, Toulouse, FranceOphthalmology Department, Purpan Hospital, Toulouse, France PubMed articlesGoogle scholar articles
  • Jean-Louis Arné Ophthalmology Department, Purpan Hospital, Toulouse, France PubMed articlesGoogle scholar articles
  • Steven G Rozen Duke-National University of Singapore Graduate Medical School, Singapore, Singapore PubMed articlesGoogle scholar articles
  • François Malecaze EA-4555 Genetics of refractive disorders and developmental defects of the Eye, Centre de Physiopathologie de Toulouse Purpan, Toulouse III Paul-Sabatier University, Toulouse, FranceOphthalmology Department, Purpan Hospital, Toulouse, France PubMed articlesGoogle scholar articles
  • Terri L Young Duke Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USADepartment of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Vincent José Soler, Ophthalmology Department, Pavillon Dieulafoy, Place Baylac, 31057 Toulouse Cedex 9, France; vincesoler{at}yahoo.fr
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Citation

Soler VJ, Tran-Viet K, Galiacy SD, et al
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis
Journal of Medical Genetics 2013;50:246-254.

Publication history

  • Received September 27, 2012
  • Revised November 30, 2012
  • Accepted December 25, 2012
  • First published January 24, 2013.
Online issue publication 
April 27, 2016

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