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Further characterisation of ARX-related disorders in females due to inherited or de novo variants

Authors

  • Mathilde Gras Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Solveig Heide Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France Reference Center for Rare Diseases « Intellectual disabilities of rare causes » Déficiences Intellectuelles de Causes Rares, University Hospital Pitié Salpêtrière, Paris, France Doctoral College, Sorbonne University, Paris, France PubMed articlesGoogle scholar articles
  • Boris Keren Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Stéphanie Valence Unit of Pediatric Neurology, APHP Sorbonne Université, Armand-Trousseau Hospital, Paris, France Reference Center for Rare Diseases « Intellectual disabilites of rare causes » Déficiences Intellectuelles de Causes Rares, Armand-Trousseau Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Catherine Garel Unit of Pediatric Radiology, APHP Sorbonne Université, Armand-Trousseau Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Sandra Whalen Department of Clinical Genetics and Reference Center for Rare Diseases « Developmental disorders and syndromes », APHP Sorbonne Université, Armand-Trousseau Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Anna C Jansen Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium PubMed articlesGoogle scholar articles
  • Kathelijn Keymolen Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussels), Vrije Universiteit Brussel (VUB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Katrien Stouffs Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussels), Vrije Universiteit Brussel (VUB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Mélanie Jennesson Pediatrics Unit, University Hospital of Reims, American Memorial Hospital, Reims, France PubMed articlesGoogle scholar articles
  • Céline Poirsier UF génétique clinique, Pôle Femme-Parents-Enfants, CHU Reims, Reims, France PubMed articlesGoogle scholar articles
  • Gaetan Lesca Department of Genetics, Referral Center for Developmental Anomalies and Malformative Syndromes, Centre-est HCL, Hospices Civils de Lyon, Lyon, France PubMed articlesGoogle scholar articles
  • Christel Depienne Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany PubMed articlesGoogle scholar articles
  • Caroline Nava Brain Institute, Paris, France PubMed articlesGoogle scholar articles
  • Agnès Rastetter Brain Institute, Paris, France PubMed articlesGoogle scholar articles
  • Aurore Curie Reference Centre for Rare Diseases « Intellectual disabilities of rare causes », Civil Hospices of Lyon, Lyon, France University Lyon 1 Faculty of Medicine Lyon-Est, Lyon, France PubMed articlesGoogle scholar articles
  • Laurence Cuisset APHP Centre Université Paris Cité, Service de Médecine Génomique des Maladies de Système et d’Organe, Cochin Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Vincent Des Portes Reference Centre for Rare Diseases « Intellectual disabilities of rare causes », Civil Hospices of Lyon, Lyon, France University Lyon 1 Faculty of Medicine Lyon-Est, Lyon, France PubMed articlesGoogle scholar articles
  • Mathieu Milh Department of Neurology Pediatrics, AP-HM, Hôpital de la Timone, Marseille, France PubMed articlesGoogle scholar articles
  • Perrine Charles Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France Reference Center for Rare Diseases « Intellectual disabilities of rare causes » Déficiences Intellectuelles de Causes Rares, University Hospital Pitié Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Cyril Mignot Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France Reference Center for Rare Diseases « Intellectual disabilities of rare causes » Déficiences Intellectuelles de Causes Rares, University Hospital Pitié Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Delphine Héron Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France Reference Center for Rare Diseases « Intellectual disabilities of rare causes » Déficiences Intellectuelles de Causes Rares, University Hospital Pitié Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Mrs Mathilde Gras, Department of Clinical Genetics, University Hospital Pitié Salpêtrière, Paris 75013, France; mathilde.gras{at}aphp.fr
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Citation

Gras M, Heide S, Keren B, et al
Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Journal of Medical Genetics 2024;61:103-108.

Publication history

  • Received February 9, 2023
  • Accepted September 30, 2023
  • First published October 25, 2023.
Online issue publication 
January 19, 2024

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© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.