Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management

Author:

Avila M.12,Dyment D.A.3,Sagen J.V.45,St-Onge J.16,Moog U.7,Chung B.H.Y.8,Mo S.8,Mansour S.9,Albanese A.10,Garcia S.1112,Martin D.O.13,Lopez A.A.14,Claudi T.15,König R.16,White S.M.1718,Sawyer S.L.3,Bernstein J.A.19,Slattery L.19,Jobling R.K.20,Yoon G.20,Curry C.J.21,Merrer M.L.22,Luyer B.L.23,Héron D.24,Mathieu-Dramard M.25,Bitoun P.26,Odent S.2728,Amiel J.22,Kuentz P.1,Thevenon J.129,Laville M.3031,Reznik Y.32,Fagour C.33,Nunes M.-L.33,Delesalle D.34,Manouvrier S.35,Lascols O.36373839,Huet F.12,Binquet C.40,Faivre L.129,Rivière J.-B.16,Vigouroux C.36373839,Njølstad P.R.41,Innes A.M.4243,Thauvin-Robinet C.129

Affiliation:

1. EA4271 "Génétique des Anomalies du Développement" (GAD); Université de Bourgogne; Dijon France

2. Service de Pédiatrie 1; Centre Hospitalier Universitaire Dijon; Dijon France

3. Children's Hospital of Eastern Ontario Research Institute; University of Ottawa; Ottawa Canada

4. Hormone Laboratory; Haukeland University Hospital; Bergen Norway

5. KJ Jebsen Center for Diabetes Research, Department of Clinical Science; University of Bergen; Bergen Norway

6. CHU Dijon; Laboratoire de Génétique Moléculaire; Dijon France

7. Institute of Human Genetics; University of Heidelberg; Heidelberg Germany

8. Department of Paediatrics and Adolescent Medicine; The University of Hong Kong - Shenzhen Hospital; Shenzhen China

9. SW Thames Regional Genetics Service; St. George's Hospital Medical School; London SW17 0RE UK

10. Paediatric Endocrine Unit; St George's Hospital; London UK

11. Institute of Medical and Molecular Genetics (INGEMM); La Paz University Hospital; Madrid Spain

12. Instituto de Salud Carlos III, Unit 753; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER); Madrid Spain

13. Department of Ophthalmology; Hospital Central de la Cruz Roja San Jose y Santa Adela; Madrid Spain

14. Puerta de Hierro; University Hospital; Madrid Spain

15. Department of Medicine; Bodø Norway

16. Department of Human Genetics; University of Frankfurt; Frankfurt Germany

17. Victorian Clinical genetics Services; Murdoch Childrens Research institute; Parkville Australia

18. Department of Paediatrics; University of Melbourne; Melbourne Australia

19. Division of Medical Genetics, Department of Pediatrics; Stanford University; Stanford CA USA

20. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children; University of Toronto; Toronto ON Canada

21. Genetic Medicine/; University of California; San Francisco CA USA

22. Département de Génétique; Hôpital Necker Enfants Malades; Paris France

23. Service de Pédiatrie; CH Le Havre; Le Havre France

24. Département de Génétique et Centre de Référence “Déficiences intellectuelles de causes rares”; Paris France

25. Service de Génétique clinique; Amiens France

26. Service de Pédiatrie; Bondy France

27. Service de Génétique clinique; Rennes France

28. UMR CNRS 6290 IGDR; Universitė Rennes; Rennes France

29. Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est; FHU-TRANSLAD; Dijon France

30. Département d'Endocrinologie, Diabétologie et Nutrition, Hospices Civils de Lyon; Centre Hospitalier Lyon-Sud; Pierre-Bénite France

31. Institut National de la Santé et de la Recherche Médicale Unité 1060, Centre Européen pour la nutrition et la Santé, Centre de Recherche en Nutrition Humaine Rhône-Alpes; Université Claude Bernard Lyon; Pierre-Bénite France

32. Service d'Endocrinologie; Centre Hospitalier Universitaire Côte-de-Nacre; Caen France

33. Département d'Endocrinologie, Hôpital Haut-Lévêque; Centre Hospitalier Universitaire de Bordeaux; Pessac France

34. Service de pédiatrie; CH de Valencienne; Valencienne France

35. Centre de Référence CLAD NdF - Service de génétique clinique Guy Fontaine; CHRU de Lille - Hôpital Jeanne de Flandre; Lille France

36. INSERM, UMR_S938; Centre de Recherche Saint-Antoine; Paris France

37. UPMC Univ Paris 06; Paris France

38. ICAN, Institute of Cardiometabolism And Nutrition; Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Paris France

39. AP-HP, Hôpital Saint-Antoine; Laboratoire Commun de Biologie et Génétique Moléculaires; Paris France

40. Centre d'Investigation Clinique-Epidémiologique Clinique/essais cliniques du CHU de Dijon; Dijon France

41. Department of Pediatrics, Haukeland; University Hospital; Bergen Norway

42. Department of Medical Genetics; University of Calgary; Calgary Canada

43. Alberta Children's Hospital Research Institute for Child and Maternal Health; University of Calgary; Calgary Canada

Funder

Genome Canada

Canadian Institutes of Health Research

Ontario Genomics Institute

Ontario Research Fund

Genome Quebec

Children's Hospital of Eastern Ontario Foundation

Research Council of Norway

The University of Bergen

ERC Advanced Grant

Helse Vest

KG Jebsen Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

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