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Developmental defects
Original article
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

Authors

  • Estelle Lopez University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France PubMed articlesGoogle scholar articles
  • Marie Berenguer University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France PubMed articlesGoogle scholar articles
  • Angèle Tingaud-Sequeira University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France PubMed articlesGoogle scholar articles
  • Sandrine Marlin Département de Génétique, Hôpital Universitaire Necker-Enfants-Malades, Centre de Référence des Surdités Génétiques, Paris, France PubMed articlesGoogle scholar articles
  • Annick Toutain Service de Génétique, Hôpital Bretonneau, Centre Hospitalier Universitaire, Tours, France PubMed articlesGoogle scholar articles
  • Françoise Denoyelle Service d'ORL pédiatrique et de chirurgie cervicofaciale, Hôpital Universitaire Necker-Enfants-Malades, Centre de Référence des malformations ORL rares, Paris, France PubMed articlesGoogle scholar articles
  • Arnaud Picard Service de chirurgie maxillo-faciale, Hôpital Universitaire Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Sabine Charron University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France PubMed articlesGoogle scholar articles
  • Guilaine Mathieu University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France PubMed articlesGoogle scholar articles
  • Harmony de Belvalet University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France PubMed articlesGoogle scholar articles
  • Benoit Arveiler University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France Service de Génétique Médicale, CHU de Bordeaux, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Bordeaux, France PubMed articlesGoogle scholar articles
  • Patrick J Babin University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France PubMed articlesGoogle scholar articles
  • Didier Lacombe University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France Service de Génétique Médicale, CHU de Bordeaux, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Bordeaux, France PubMed articlesGoogle scholar articles
  • Caroline Rooryck University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France Service de Génétique Médicale, CHU de Bordeaux, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Bordeaux, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Caroline Rooryck, Laboratoire Maladies Rares: Génétique et Métabolisme, U1211 INSERM CHU Pellegrin—Ecole des Sages-femmes, Place Amélie Raba-Léon, Bordeaux 33076, Cedex France; caroline.rooryck-thambo{at}chu-bordeaux.fr
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Citation

Lopez E, Berenguer M, Tingaud-Sequeira A, et al
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS
Journal of Medical Genetics 2016;53:752-760.

Publication history

  • Received January 12, 2016
  • Revised May 26, 2016
  • Accepted June 1, 2016
  • First published June 29, 2016.
Online issue publication 
October 25, 2017

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