Clinical and molecular delineation of PUS3 ‐associated neurodevelopmental disorders

Author:

Nøstvik Miriam1,Kateta Sarah M.1,Schönewolf‐Greulich Bitten1ORCID,Afenjar Alexandra2,Barth Magalie3,Boschann Felix4ORCID,Doummar Diane5,Haack Tobias B.67,Keren Boris8,Livshits Ludmila A.8910,Mei Davide11,Park Joohyun6,Pisano Tiziana11,Prouteau Clement3,Umair Muhammad1213,Waqas Ahmed14,Ziegler Alban3ORCID,Guerrini Renzo11,Møller Rikke S.1516,Tümer Zeynep117ORCID

Affiliation:

1. Kennedy Center, Department of Clinical Genetics Copenhagen University Hospital Copenhagen Denmark

2. APHP. Sorbonne Université, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares département de génétique et embryologie médicale, Hôpital Trousseau Paris France

3. Centre Hospitalo‐Universitaire d’Angers Département de Génétique Médicale Angers France

4. Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt‐Universität zu Berlin Institute of Medical Genetics and Human Genetics Berlin Germany

5. APHP. Sorbonne Université, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, service de neuropédiatrie Hôpital Trousseau Paris France

6. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

7. Centre for Rare Diseases University of Tübingen Tübingen Germany

8. Département de génétique, Hôpital Pitié‐Salpêtrière AP‐HP.Sorbonne université Paris France

9. Institute of Molecular Biology and Genetics National Academy of Science of Ukraine Kyiv Ukraine

10. State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after Academician O.M. Lukyanova, National Academy of Medical Sciences of Ukraine” Kyiv Ukraine

11. Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare University of Florence Florence Italy

12. Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH) Riyadh Saudi Arabia

13. Department of Life Sciences, School of Science University of Management and Technology (UMT) Lahore Pakistan

14. Department of Zoology, Division of Science and Technology University of Education Lahore Punjab Pakistan

15. Department of Regional Health Research University of Southern Denmark Odense Denmark

16. The Danish Epilepsy Centre Dianalund Denmark

17. Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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