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Original research
Biallelic truncating variants in VGLL2 cause syngnathia in humans

Authors

  • Valeria Agostini Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Aude Tessier Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Nabila Djaziri Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Roman Hossein Khonsari Service de Chirurgie Maxillofaciale et Chirurgie Plastique, Centre de référence Fentes et Malformations Faciales (MAFACE), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Eva Galliani Service de Chirurgie Maxillofaciale et Chirurgie Plastique, Centre de référence Fentes et Malformations Faciales (MAFACE), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Yukiko Kurihara Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Masahiko Honda Department of Biochemistry, Faculty of Medicine, Kindai University, Osaka-Sayama, Japan PubMed articlesGoogle scholar articles
  • Hiroki Kurihara Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Kyoko Hidaka Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan PubMed articlesGoogle scholar articles
  • Gokhan Tuncbilek Hacettepe University, Ankara, Turkey PubMed articlesGoogle scholar articles
  • Arnaud Picard Service de Chirurgie Maxillofaciale et Chirurgie Plastique, Centre de référence Fentes et Malformations Faciales (MAFACE), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Ersoy Konas Hacettepe University, Ankara, Turkey PubMed articlesGoogle scholar articles
  • Jeanne Amiel Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France PubMed articlesGoogle scholar articles
  • Christopher T Gordon Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Christopher T Gordon, Institut Imagine, Paris 75015, France; chris.gordon{at}inserm.fr; Professor Jeanne Amiel, Institut Imagine, Paris 75015, France; jeanne.amiel{at}inserm.fr
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Citation

Agostini V, Tessier A, Djaziri N, et al
Biallelic truncating variants in VGLL2 cause syngnathia in humans

Publication history

  • Received November 16, 2022
  • Accepted April 24, 2023
  • First published September 4, 2023.
Online issue publication 
October 24, 2023

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