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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas, Nancy; Demir, Zeynep; Gordon, Christopher T; Breton, Sylvain; Romanelli Tavares, Vanessa L; Moisset, Hugo; Zechi-Ceide, Roseli; Kokitsu-Nakata, Nancy M; Kido, Yasuhiro; Marlin, Sandrine; Gherbi Halem, Souad; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian; Revencu, Nicole; Lehalle, Daphné; Petit, Florence; Propst, Evan J; Papsin, Blake C; Phillips, John H; Jakobsen, Linda; Le Tanno, Pauline; Thévenon, Julien; McGaughran, Julie; Gerkes, Erica H; Leoni, Chiara; Kroisel, Peter; Tan, Tiong Y; Henderson, Alex; Terhal, Paulien; Basel-Salmon, Lina; Alkindy, Adila; White, Susan M; Passos-Bueno, Maria R; Pingault, Véronique; De Pontual, Loïc; Amiel, Jeanne.
Affiliation
  • Vegas N; Laboratory of Embryology and Genetics of Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris, France.
  • Demir Z; Laboratory of Embryology and Genetics of Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris, France.
  • Gordon CT; Unité d'hépatologie Pédiatrie et Transplantation, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Breton S; Laboratory of Embryology and Genetics of Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris, France.
  • Romanelli Tavares VL; Service d'imagerie Pédiatrie, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Moisset H; Departamento de Genetica e Biología Evolutiva, Centro de Pesquisas do Genoma Humano e Celulas Tronco, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Zechi-Ceide R; Laboratory of Embryology and Genetics of Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris, France.
  • Kokitsu-Nakata NM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, Bauru, Brazil.
  • Kido Y; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, Bauru, Brazil.
  • Marlin S; Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan.
  • Gherbi Halem S; Laboratory of Embryology and Genetics of Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris, France.
  • Meerschaut I; Reference Center for Genetic Hearing Loss, Fédération de Génétique et de Médecine Génomique, Hôpital Necker, APHP.CUP, Paris, France.
  • Callewaert B; Reference Center for Genetic Hearing Loss, Fédération de Génétique et de Médecine Génomique, Hôpital Necker, APHP.CUP, Paris, France.
  • Chung B; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
  • Revencu N; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
  • Lehalle D; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
  • Petit F; Center for Human Genetics, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium.
  • Propst EJ; Centre de Génétique-Centre de Référence des Maladies Rares, Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalo-Universitaire de Dijon, Bourgogne, France.
  • Papsin BC; Département de Génétique, UF de Génétique Médicale, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France.
  • Phillips JH; CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
  • Jakobsen L; Department of Otolaryngology-Head and Neck Surgery, The Hospital for Sick Children, University of Toronto, Canada.
  • Le Tanno P; Department of Otolaryngology-Head and Neck Surgery, The Hospital for Sick Children, University of Toronto, Canada.
  • Thévenon J; Department of Otolaryngology-Head and Neck Surgery, The Hospital for Sick Children, University of Toronto, Canada.
  • McGaughran J; Department of Plastic Surgery, Copenhagen University Hospital, Herlev, Denmark.
  • Gerkes EH; Service de Génétique et Université Grenoble-Alpes, Grenoble, France.
  • Leoni C; Service de Génétique et Université Grenoble-Alpes, Grenoble, France.
  • Kroisel P; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston and the University of Queensland, St Lucia, Brisbane, Australia.
  • Tan TY; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Henderson A; Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico A. Gemelli, IRCCS, Rome, Italy.
  • Terhal P; Institute of Human Genetics, Medical University of Graz, Graz, Austria.
  • Basel-Salmon L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, and Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Alkindy A; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
  • White SM; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Passos-Bueno MR; Pediatric Genetics, Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
  • Pingault V; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • De Pontual L; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.
  • Amiel J; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
Hum Mutat ; 43(5): 582-594, 2022 05.
Article in En | MEDLINE | ID: mdl-35170830
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ear Diseases Limits: Humans Language: En Journal: Hum Mutat Year: 2022 Document type: Article
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ear Diseases Limits: Humans Language: En Journal: Hum Mutat Year: 2022 Document type: Article