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Review
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

Authors

  • Angèle Tingaud-Sequeira Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, F-33000 Bordeaux, France PubMed articlesGoogle scholar articles
  • Aurélien Trimouille Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, F-33000 Bordeaux, FranceCHU de Bordeaux, Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, F-33076, Bordeaux, France PubMed articlesGoogle scholar articles
  • Thomas Sagardoy CHU de Bordeaux, Service d'oto-rhino-laryngologie, de chirurgie cervico-faciale et d'ORL pédiatrique, 33076 Bordeaux, France PubMed articlesGoogle scholar articles
  • Didier Lacombe Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, F-33000 Bordeaux, FranceCHU de Bordeaux, Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, F-33076, Bordeaux, France PubMed articlesGoogle scholar articles
  • Caroline Rooryck Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, F-33000 Bordeaux, FranceCHU de Bordeaux, Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, F-33076, Bordeaux, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Caroline Rooryck, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Université bordeaux, Bordeaux, France; caroline.rooryck-thambo{at}chu-bordeaux.fr
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Citation

Tingaud-Sequeira A, Trimouille A, Sagardoy T, et al
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
Journal of Medical Genetics 2022;59:417-427.

Publication history

  • Received September 20, 2021
  • Accepted December 30, 2021
  • First published February 2, 2022.
Online issue publication 
April 22, 2022

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© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.