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Developmental defects
Original article
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

Authors

  • Audrey Putoux INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France Université Paris Descartes, Paris Sorbonne Cité, Paris, France PubMed articlesGoogle scholar articles
  • Sheela Nampoothiri Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kerala, India PubMed articlesGoogle scholar articles
  • Nicole Laurent Service d'Anatomie Pathologique, CHU Dijon, Dijon, France PubMed articlesGoogle scholar articles
  • Valérie Cormier-Daire INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France Université Paris Descartes, Paris Sorbonne Cité, Paris, France Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France PubMed articlesGoogle scholar articles
  • Philip L Beales Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Albert Schinzel Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland PubMed articlesGoogle scholar articles
  • Deborah Bartholdi Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland PubMed articlesGoogle scholar articles
  • Caroline Alby INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France Université Paris Descartes, Paris Sorbonne Cité, Paris, France Service de Gynécologie Obstétrique, Hôpital Necker Enfants Malades, AP-HP, Paris, France PubMed articlesGoogle scholar articles
  • Sophie Thomas INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France Université Paris Descartes, Paris Sorbonne Cité, Paris, France PubMed articlesGoogle scholar articles
  • Nadia Elkhartoufi Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France PubMed articlesGoogle scholar articles
  • Amale Ichkou Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France PubMed articlesGoogle scholar articles
  • Julie Litzler Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France PubMed articlesGoogle scholar articles
  • Arnold Munnich INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France Université Paris Descartes, Paris Sorbonne Cité, Paris, France Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France PubMed articlesGoogle scholar articles
  • Férechté Encha-Razavi INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France Université Paris Descartes, Paris Sorbonne Cité, Paris, France Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France PubMed articlesGoogle scholar articles
  • Rajesh Kannan Department of Radiology, Amrita Institute of Medical Sciences, Kerala, India PubMed articlesGoogle scholar articles
  • Laurence Faivre Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon, France EA 4271 GAD, IFR Santé – STIC, Université de Bourgogne, France PubMed articlesGoogle scholar articles
  • Nathalie Boddaert Université Paris Descartes, Paris Sorbonne Cité, Paris, France Service de Radiologie Pédiatrique et INSERM U1000, Hôpital Necker-Enfants Malades, AP-HP, Paris, France PubMed articlesGoogle scholar articles
  • Anita Rauch Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland PubMed articlesGoogle scholar articles
  • Michel Vekemans INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France Université Paris Descartes, Paris Sorbonne Cité, Paris, France Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France PubMed articlesGoogle scholar articles
  • Tania Attié-Bitach INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France Université Paris Descartes, Paris Sorbonne Cité, Paris, France Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Tania Attie-Bitach, Département de Génétique et Unité INSERM U-781, Hôpital Necker-Enfants Malades, 75015 Paris, France; tania.attie{at}inserm.fr
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Citation

Putoux A, Nampoothiri S, Laurent N, et al
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
Journal of Medical Genetics 2012;49:713-720.

Publication history

  • Received April 29, 2012
  • Accepted September 21, 2012
  • First published November 2, 2012.
Online issue publication 
April 27, 2016

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