Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Author:

Nizon Mathilde1,Huber Céline1,De Leonardis Fabio2,Merrina Rodolphe1,Forlino Antonella2,Fradin Mélanie1,Tuysuz Beyhan3,Abu‐Libdeh Bassam Y.4,Alanay Yasemin5,Albrecht Beate6,Al‐Gazali Lihadh7,Basaran Sarenur Yilmaz8,Clayton‐Smith Jill9,Désir Julie10,Gill Harinder11,Greally Marie T.11,Koparir Erkan8,van Maarle Merel C12,MacKay Sara13,Mortier Geert14,Morton Jenny15,Sillence David16,Vilain Catheline10,Young Ian17,Zerres Klaus18,Le Merrer Martine1,Munnich Arnold1,Le Goff Carine1,Rossi Antonio2,Cormier‐Daire Valérie1

Affiliation:

1. Departement de Génétique, INSERM U781, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades (AP‐HP), Paris, France

2. Department of Molecular Medicine, University of Pavia, Pavia, Italy

3. Division of Genetics, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey

4. Pediatrics and Genetics, Makassed Hospital, Jerusalem, Al‐Quds Medical School, Jerusalem

5. Pediatric Genetics, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey

6. Institute for Human Genetics, University of Hufelandstr, Essen, Germany

7. Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al‐Ain, United Arab Emirates

8. Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey

9. Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester; Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, United Kingdom

10. Department of Medical Genetics, Hôpital Erasme‐ULB, Brussels, Belgium

11. National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland

12. Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands

13. Provincial Medical Genetics Program, Eastern Health, St. John's, Newfoundland, Canada

14. Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium

15. Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, United Kingdom

16. Department of Genetic Medicine, University of Sydney, New South Wales, Australia

17. Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, United Kingdom

18. Department of Human Genetics, Aachen University, Aachen, Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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