Gain-of-Function Mutations inRARBCause Intellectual Disability with Progressive Motor Impairment-Reference-Cited by-同舟云学术

Gain-of-Function Mutations inRARBCause Intellectual Disability with Progressive Motor Impairment

Published:2016-05-09 Issue:8 Volume:37 Page:786-793
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Srour Myriam¹²,Caron Véronique¹,Pearson Toni³,Nielsen Sarah B.⁴,Lévesque Sébastien⁵,Delrue Marie-Ange⁶,Becker Troy A.⁷,Hamdan Fadi F.¹,Kibar Zoha¹⁸,Sattler Shannon G.⁹,Schneider Michael C.⁹,Bitoun Pierre¹⁰,Chassaing Nicolas¹¹¹²,Rosenfeld Jill A.¹³,Xia Fan¹³,Desai Sonal¹⁴,Roeder Elizabeth¹⁵,Kimonis Virginia¹⁶,Schneider Adele¹⁶,Littlejohn Rebecca Okashah¹⁵,Douzgou Sofia¹⁷,Tremblay André¹¹⁸¹⁹,Michaud Jacques L.¹⁶⁸¹⁹

Affiliation:

1. CHU Sainte-Justine Research Center; Montréal H3T 1C5 Canada

2. Department of Pediatrics; Neurology and Neurosurgery; McGill University; Montreal H3A 1A4 Canada

3. Department of Neurology; Icahn School of Medicine at Mount Sinai; New York New York 10029

4. Verona Pediatrics; Verona New Jersey 07044

5. Division of Medical Genetics; Department of Pediatrics; Centre Hospitalier Universitaire de Sherbrooke; Sherbrooke J1H 5N4 Canada

6. Department of Pediatrics; Université de Montréal; Montreal H3T 1J4 Canada

7. Division of Genetics and Metabolism; All Children's Hospital; St-Petersburg Florida 33701

8. Department of Neurosciences; Université de Montréal; Montreal H3T 1J4 Canada

9. Carle Physician Group; Urbana Illinois 61802

10. Génétique Médicale; Hôpital Jean Verdier AP-HP; C.H.U. Paris Nord Bondy 93140 France

11. Service de Génétique Médicale; Hôpital Purpan; CHU Toulouse Toulouse 31059 France

12. Université Paul-Sabatier; Toulouse III, EA-4555 and Inserm U1056 Toulouse 31000 France

13. Baylor College of Medicine; Houston Texas 77030

14. Department of Neurogenetics; Kennedy Krieger Institute; Baltimore Maryland 21205

15. Children's Hospital of San Antonio San Antonio; Texas 78207

16. Division of Genetics and Genomic Medicine; Univerity of California-Irvine Medical Center; Orange California 92868

17. Manchester Centre for Genomic Medicine; Central Manchester University Hospitals NHS Foundation Trust; MAHSC; Saint Mary's Hospital; Manchester M13 9WL UK

18. Department of Obstetrics and Gynecology; Université de Montréal; Montreal H3T 1J4 Canada

19. Department of Biochemistry and Molecular Medicine; Université de Montréal; Montreal H3T 1J4 Canada

Funder

Fondation Jean-Louis Lévesque

Fondation du Grand Défi Pierre Lavoie

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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