Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

Author:

Fergelot Patricia1,Van Belzen Martine2,Van Gils Julien3,Afenjar Alexandra4,Armour Christine M.5,Arveiler Benoit1,Beets Lex6,Burglen Lydie4,Busa Tiffany7,Collet Marie8,Deforges Julie3,de Vries Bert B. A.9,Dominguez Garrido Elena10,Dorison Nathalie11,Dupont Juliette12,Francannet Christine13,Garciá-Minaúr Sixto14,Gabau Vila Elisabeth15,Gebre-Medhin Samuel16,Gener Querol Blanca17,Geneviève David18,Gérard Marion19,Gervasini Cristina Giovanna20,Goldenberg Alice21,Josifova Dragana22,Lachlan Katherine23,Maas Saskia6,Maranda Bruno24,Moilanen Jukka S.25,Nordgren Ann26,Parent Philippe27,Rankin Julia28,Reardon Willie29,Rio Marlène7,Roume Joëlle30,Shaw Adam22,Smigiel Robert31,Sojo Amaia17,Solomon Benjamin32,Stembalska Agnieszka33,Stumpel Constance34,Suarez Francisco35,Terhal Paulien36,Thomas Simon37,Touraine Renaud38,Verloes Alain39,Vincent-Delorme Catherine40,Wincent Josephine26,Peters Dorien J. M.2,Bartsch Oliver41,Larizza Lidia42,Lacombe Didier1,Hennekam Raoul C.6

Affiliation:

1. Department of Genetics, and INSERM U1211; University Hospital of Bordeaux; Bordeaux France

2. Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

3. Department of Genetics; University Hospital Center; Bordeaux France

4. Unité de Génétique; Hospital Armand Trousseau-La Roche-Guyon; AP-HP Paris France

5. Regional Genetics Unit; Children's Hospital of Eastern Ontario; Ottawa Canada

6. Department of Pediatrics; Academic Medical Center; Amsterdam The Netherlands

7. Unité de Génétique Clinique; Hospital La Timone; AP-HM Marseille France

8. Département de Génétique; Hospital Necker-Enfants Malades; AP-HP Paris France

9. Department of Human Genetics, Donders Centre for Neuroscience; Radboud University Medical Center; Nijmegen The Netherlands

10. Center for Biomedical Research; Logrono-La Rioja Spain

11. Departement de Neuropédiatrie; Institut Jérôme Lejeune; Paris France

12. Serviço de Genética; Departamento de Pediatria; Hospital de Santa Maria; CHLN Lisboa Portugal

13. Service de Génétique Médicale; CHU Estaing; Clermont-Ferrand France

14. Institute of Medical and Molecular Genetics; University Hospital La Paz; Madrid Spain

15. Genetics Clinic; Hospital de Sabadell; Corporació Sanitària Parc Taulí Sabadell Spain

16. Division of Clinical Genetics; Department of Laboratory Medicine; Lund University; Lund Sweden

17. Hospital de Cruces; Baracaldo Spain

18. Service de Génétique Médicale; Hospital Arnaud de Villeneuve; CHU Montpellier Montpellier France

19. Service de Génétique; Hospital Clémenceau; CHU de Caen, Caen France

20. Department of Medical Genetics; University of Milan; Milan Italy

21. Unité de Génétique Clinique; Hospital Charles Nicolle; CHU Rouen, Rouen France

22. Department of Medical Genetics; Guy's and St Thomas Hospital; London United Kingdom

23. Wessex Clinical Genetics Service; Princess Anne Hospital; Southampton United Kingdom

24. Laboratoire de Médecine Génétique; CHUQ Pavillon CHUL; Saint Foy Canada

25. PEDEGO Research Unit, and Medical Research Center Oulu; Department of Clinical Genetics; University of Oulu; Oulu University Hospital; Oulu Finland

26. Department of Molecular Medicine and Surgery, and Center for Molecular Medicine; Karolinska University Hospital; Stockholm Sweden

27. Département de Pédiatrie et Génétique Médicale; Hospital Augustin Morvan; CHU Brest; Brest France

28. Department of Clinical Genetics; Royal Devon and Exeter NHS Foundation Trust; Exeter United Kingdom

29. Our Lady's Hospital for Sick Children; Crumlin Ireland

30. Unité de Génétique Médicale; CHI Poissy Saint Germain en Laye France

31. Department of Paediatrics; Wroclaw Medical University; Wroclaw Poland

32. Division of Medical Genomics; Inova Translational Medical Institute; Falls Church

33. Department of Genetics; Wroclaw Medical University; Wroclaw Poland

34. Department of Clinical Genetics and School for Oncology and Developmental Biology; Maastricht University Medical Center; Maastricht The Netherlands

35. Service de Génétique; Hospital Virgen de la Salud; Toledo Spain

36. Department of Medical Genetics; University Medical Centre Utrecht; Utrecht The Netherlands

37. Wessex Regional Genetics Laboratory; Salisbury District Hospital; Salisbury United Kingdom

38. Service de Génétique Clinique et Moléculaire; CHU Hôpital-Nord; Saint-Etienne France

39. Département de Génétique; CHU Robert Debré; AP-HP Paris France

40. Service de Génétique Médicale; Hospital d'Arras; CHU de Lille Arras France

41. Institute of Human Genetics; University Medical Centre; Mainz Germany

42. Department of Health Sciences; University of Milan; Milan Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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