Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

Author:

Natera‐de Benito Daniel12ORCID,Jurgens Julie A.345,Yeung Alison67,Zaharieva Irina T.1ORCID,Manzur Adnan1,DiTroia Stephanie P.3,Di Gioia Silvio Alessandro345,Pais Lynn3ORCID,Pini Veronica1,Barry Brenda J.48,Chan Wai‐Man3458,Elder James E.79,Christodoulou John1011ORCID,Hay Eleanor12,England Eleina M.3,Munot Pinki1,Hunter David G.13,Feng Lucy1,Ledoux Danielle13,O'Donnell‐Luria Anne314ORCID,Phadke Rahul1,Engle Elizabeth C.345813,Sarkozy Anna1,Muntoni Francesco11516

Affiliation:

1. Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital Institute of Child Health London UK

2. Neuromuscular Unit, Department of Neurology Hospital Sant Joan de Déu Barcelona Spain

3. Program in Medical and Population Genetics and Center for Mendelian Genomics Broad Institute of MIT and Harvard Cambridge Massachusetts USA

4. Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts USA

5. Kirby Neurobiology Center Boston Children's Hospital Boston Massachusetts USA

6. Victorian Clinical Genetics Services Murdoch Childrens Research Institute Parkville Victoria Australia

7. Department of Paediatrics University of Melbourne Parkville Victoria Australia

8. Howard Hughes Medical Institute Chevy Chase Maryland USA

9. Department of Ophthalmology Royal Childrens's Hospital Parkville Victoria Australia

10. Murdoch Children's Research Institute Melbourne Victoria Australia

11. Department of Paediatrics University of Melbourne Melbourne Victoria Australia

12. Department of Clinical Genetics, North East Thames Regional Genetic Service Great Ormond Street Hospital London UK

13. Department of Ophthalmology Boston Children's Hospital and Harvard Medical School Boston Massachusetts USA

14. Division of Genetics and Genomics Boston Children's Hospital and Harvard Medical School Boston Massachusetts USA

15. Centre for Neuromuscular Diseases UCL Institute of Neurology London UK

16. NIHR Great Ormond Street Hospital Biomedical Research Centre UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust London UK

Funder

Fundación Alicia Koplowitz

H2020 Health

National Eye Institute

National Institute of General Medical Sciences

National Human Genome Research Institute

National Heart, Lung, and Blood Institute

Muscular Dystrophy UK

Instituto de Salud Carlos III

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

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