Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Christopher T Gordon; Alice Vuillot; Sandrine Marlin; Erica Gerkes; Alex Henderson; Adila AlKindy; Muriel Holder-Espinasse; Sarah S Park; Asma Omarjee; Mateo Sanchis-Borja; Eya Ben Bdira; Myriam Oufadem; Birgit Sikkema-Raddatz; Alison Stewart; Rodger Palmer; Ruth McGowan; Florence Petit; Bruno Delobel; Michael R Speicher; Paul Aurora; David Kilner; Philippe Pellerin; Marie Simon; Jean-Paul Bonnefont; Edward S Tobias; Sixto García-Miñaúr; Maria Bitner-Glindzicz; Pernille Lindholm; Brigitte A Meijer; Véronique Abadie; Françoise Denoyelle; Marie-Paule Vazquez; Christa Rotky-Fast; Vincent Couloigner; Sébastien Pierrot; Yves Manach; Sylvain Breton; Yvonne M C Hendriks; Arnold Munnich; Linda Jakobsen; Peter Kroisel; Angela Lin; Leonard B Kaban; Lina Basel-Vanagaite; Louise Wilson; Michael L Cunningham; Stanislas Lyonnet; Jeanne Amiel

doi:10.1136/jmedgenet-2012-101331

Article info

Developmental defects

Original article

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Authors

Christopher T Gordon INSERM U781, Hôpital Necker-Enfants Malades and Université Paris Descartes–Sorbonne Paris Cité, Institut Imagine, Paris, France PubMed articles Google scholar articles
Alice Vuillot INSERM U781, Hôpital Necker-Enfants Malades and Université Paris Descartes–Sorbonne Paris Cité, Institut Imagine, Paris, France PubMed articles Google scholar articles
Sandrine Marlin Centre de référence des surdités génétiques, Service de génétique médicale, Hôpital d'Enfants Armand-Trousseau AP-HP, Paris, France PubMed articles Google scholar articles
Erica Gerkes Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands PubMed articles Google scholar articles
Alex Henderson Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK PubMed articles Google scholar articles
Adila AlKindy Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman PubMed articles Google scholar articles
Muriel Holder-Espinasse Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU Lille, France PubMed articles Google scholar articles
Sarah S Park Center for Tissue and Cell Sciences, Seattle Children's Research Institute, Seattle, USA PubMed articles Google scholar articles
Asma Omarjee INSERM U781, Hôpital Necker-Enfants Malades and Université Paris Descartes–Sorbonne Paris Cité, Institut Imagine, Paris, France PubMed articles Google scholar articles
Mateo Sanchis-Borja INSERM U781, Hôpital Necker-Enfants Malades and Université Paris Descartes–Sorbonne Paris Cité, Institut Imagine, Paris, France PubMed articles Google scholar articles
Eya Ben Bdira INSERM U781, Hôpital Necker-Enfants Malades and Université Paris Descartes–Sorbonne Paris Cité, Institut Imagine, Paris, France PubMed articles Google scholar articles
Myriam Oufadem INSERM U781, Hôpital Necker-Enfants Malades and Université Paris Descartes–Sorbonne Paris Cité, Institut Imagine, Paris, France PubMed articles Google scholar articles
Birgit Sikkema-Raddatz Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands PubMed articles Google scholar articles
Alison Stewart West Midlands Regional Genetics Service, Birmingham, UK PubMed articles Google scholar articles
Rodger Palmer North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK PubMed articles Google scholar articles
Ruth McGowan North Scotland Regional Genetics Service, Ashgrove House, Aberdeen, UK PubMed articles Google scholar articles
Florence Petit Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU Lille, France PubMed articles Google scholar articles
Bruno Delobel Laboratoire de génétique chromosomique, Hôpital St Vincent de Paul, Lille, France PubMed articles Google scholar articles
Michael R Speicher Institute of Human Genetics, Medical University of Graz, Graz, Austria PubMed articles Google scholar articles
Paul Aurora Respiratory Medicine, Great Ormond Street Hospital, London, UK PubMed articles Google scholar articles
David Kilner Respiratory Medicine, Great Ormond Street Hospital, London, UK PubMed articles Google scholar articles
Philippe Pellerin Centre de Référence des Malformations Cranio-maxillo-faciales Rares, CHRU Lille, France PubMed articles Google scholar articles
Marie Simon AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France PubMed articles Google scholar articles
Jean-Paul Bonnefont AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France PubMed articles Google scholar articles
Edward S Tobias School of Medicine, University of Glasgow, Yorkhill Hospital, Glasgow, UK PubMed articles Google scholar articles
Sixto García-Miñaúr Institute for Medical and Molecular Genetics, La Paz University Hospital, Madrid, Spain PubMed articles Google scholar articles
Maria Bitner-Glindzicz Clinical and Molecular Genetics, Institute of Child Health, UCL, London, UK PubMed articles Google scholar articles
Pernille Lindholm Department of Plastic and Reconstructive Surgery, Copenhagen University Hospital, Rigshospitalet, Denmark PubMed articles Google scholar articles
Brigitte A Meijer Department of Oral and Maxillofacial Surgery, Kennemer Gasthuis, Haarlem, The Netherlands PubMed articles Google scholar articles
Véronique Abadie Service de Pédiatrie Générale, Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris, France PubMed articles Google scholar articles
Françoise Denoyelle INSERM UMR-S587 and Pediatric Otolaryngology Department, Armand-Trousseau Children's Hospital, AP-HP, Paris 6 University, Paris, France PubMed articles Google scholar articles
Marie-Paule Vazquez Service de Chirurgie Maxillo-Faciale et Plastique, CRMR des Malformations de la Face et de la Cavité Buccale, Hôpital Necker-Enfants Malades, AP-HP, Paris, FranceUniversité Paris 5, UFR de Médecine Paris-Descartes, Paris, FranceCentre de Recherche des Cordeliers, UMR S 872, Paris, France PubMed articles Google scholar articles
Christa Rotky-Fast Department of Pediatrics and Adolescence Medicine, Medical University of Graz, Graz, Austria PubMed articles Google scholar articles
Vincent Couloigner Service d'ORL Pediatrique, Hôpital Necker-Enfants Malades, AP-HP, Université Paris 5, Paris, France PubMed articles Google scholar articles
Sébastien Pierrot Service d'ORL Pediatrique, Hôpital Necker-Enfants Malades, AP-HP, Université Paris 5, Paris, France PubMed articles Google scholar articles
Yves Manach Service d'ORL Pediatrique, Hôpital Necker-Enfants Malades, AP-HP, Université Paris 5, Paris, France PubMed articles Google scholar articles
Sylvain Breton AP-HP, Service d'Imagerie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France Laboratoire d'Anatomie, Université Paris-Descartes, Paris, France PubMed articles Google scholar articles
Yvonne M C Hendriks Department of Clinical Genetics, Free University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
Arnold Munnich INSERM U781, Hôpital Necker-Enfants Malades and Université Paris Descartes–Sorbonne Paris Cité, Institut Imagine, Paris, FranceAP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France PubMed articles Google scholar articles
Linda Jakobsen Department of Plastic and Reconstructive Surgery, Copenhagen University Hospital, Rigshospitalet, Denmark PubMed articles Google scholar articles
Peter Kroisel Institute of Human Genetics, Medical University of Graz, Graz, Austria PubMed articles Google scholar articles
Angela Lin Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA PubMed articles Google scholar articles
Leonard B Kaban Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA PubMed articles Google scholar articles
Lina Basel-Vanagaite Pediatric Genetics, Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel PubMed articles Google scholar articles
Louise Wilson North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK PubMed articles Google scholar articles
Michael L Cunningham Center for Tissue and Cell Sciences, Seattle Children's Research Institute, Seattle, USA Department of Pediatrics, University of Washington and Seattle Children's Hospital Craniofacial Center, Seattle, Washington, USA PubMed articles Google scholar articles
Stanislas Lyonnet INSERM U781, Hôpital Necker-Enfants Malades and Université Paris Descartes–Sorbonne Paris Cité, Institut Imagine, Paris, FranceAP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France PubMed articles Google scholar articles
Jeanne Amiel INSERM U781, Hôpital Necker-Enfants Malades and Université Paris Descartes–Sorbonne Paris Cité, Institut Imagine, Paris, FranceAP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France PubMed articles Google scholar articles

Correspondence to Dr Christopher T Gordon and Professor Jeanne Amiel, INSERM U781, Tour Lavoisier 2ème étage, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, Paris 75015, France; chris.gordon{at}inserm.fr, jeanne.amiel{at}inserm.fr

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Citation

Gordon CT, Vuillot A, Marlin S, et al

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Journal of Medical Genetics 2013;50:174-186.

Publication history

Received October 1, 2012
Revised December 6, 2012
Accepted December 7, 2012
First published January 12, 2013.

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April 27, 2016

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