Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Author:

Costantini Alice1ORCID,Alm Jessica J1,Tonelli Francesca2,Valta Helena3,Huber Céline4,Tran Anh N5,Daponte Valentina2,Kirova Nadi1,Kwon Yong‐Uk6,Bae Jung Yun7,Chung Woo Yeong8,Tan Shengjiang91011,Sznajer Yves12,Nishimura Gen13,Näreoja Tuomas5,Warren Alan J91011,Cormier‐Daire Valérie4ORCID,Kim Ok‐Hwa14,Forlino Antonella2,Cho Tae‐Joon15,Mäkitie Outi131617ORCID

Affiliation:

1. Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden

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

3. Children's Hospital, Pediatric Research Center University of Helsinki and Helsinki University Hospital Helsinki Finland

4. Department of Clinical Genetics INSERM UMR 1163, Paris Descartes‐Sorbonne Paris Cité University, Imagine Institute, Necker Enfans Malades Hospital (AP‐HP) Paris France

5. Division of Pathology, Department of Laboratory Medicine Karolinska Institutet Huddinge Sweden

6. Department of Orthopaedic Surgery Busan Paik Hospital, Inje University College of Medicine Busan South Korea

7. Department of Orthopaedic Surgery Pusan National University Yangsan Hospital, Pusan National University School of Medicine Yangsan Republic of Korea

8. Department of Pediatrics Busan Paik Hospital, College of Medicine, Inje University Busan Republic of Korea

9. Cambridge Institute for Medical Research, Keith Peters Building Cambridge UK

10. Department of Haematology University of Cambridge Cambridge UK

11. Wellcome Trust–Medical Research Council Stem Cell Institute, University of Cambridge Cambridge UK

12. Centre de Génétique Humaine – CGH Cliniques Universitaires St. Luc, UCL Bruxelles Belgium

13. Center for Intractable Diseases Saitama Medical University Hospital Saitama Japan

14. Department of Radiology, I‐Bone Hospital Cheonan Republic of Korea

15. Division of Pediatric Orthopaedics, Seoul National University Children's Hospital Seoul Republic of Korea

16. Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden

17. Folkhälsan Institute of Genetics, and Research Program for Clinical and Molecular Metabolism, University of Helsinki Helsinki Finland

Funder

Academy of Finland

Bloodwise

Novo Nordisk Fonden

Sigrid Juséliuksen Säätiö

Stockholms Läns Landsting

Vetenskapsrådet

Suomen Kulttuurirahasto

NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research

National Institute for Health Research

Ministero dell’Istruzione, dell’Università e della Ricerca

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

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