Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions
Christèle Dubourg(Centre Hospitalier Universitaire de Rennes), Véronique David(Centre National de la Recherche Scientifique), Sophie Julia(Hôpital Purpan), Massimiliano Rossi(Hospices Civils de Lyon), Frédérique Bonnet‐Brilhault(Inserm), Anne Dieux, Annick Toutain(University Medical Center Groningen), B. Isidor(Génétique Médicale & Génomique Fonctionelle), Cyril Mignot(Sorbonne Université), Claude Bendavid(Centre National de la Recherche Scientifique), S. Odent(CIC Rennes), Aurélia Jacquette(Sorbonne Université), Catherine Barthélémy(Inserm), Alain Verloès(Inserm), M. Gérard(Hôpital Georges-Clemenceau), M.-P. Beaumont-Epinette(Laboratoire de Génétique Cellulaire)
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