New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

Author:

Szot Justin O.1ORCID,Slavotinek Anne2ORCID,Chong Karen3,Brandau Oliver4,Nezarati Marjan56ORCID,Cueto‐González Anna M.7ORCID,Patel Millan S.8ORCID,Devine Walter P.9ORCID,Rego Shannon2ORCID,Acyinena Alicia P.2,Shannon Patrick10,Myles‐Reid Diane3,Blaser Susan11ORCID,Mieghem Tim V.12ORCID,Yavuz‐Kienle Halenur4,Skladny Heyko4,Miller Kristen5,Riera Miereia D. T.13,Martínez Silvia A.14ORCID,Tizzano Eduardo F.715ORCID,Dupuis Lucie16ORCID,James Stavropoulos Dimitri17ORCID,McNiven Vanda16ORCID,Mendoza‐Londono Roberto16ORCID,Elliott Alison M.8ORCID,Phillips Robert S.1819ORCID,Chapman Gavin120ORCID,Dunwoodie Sally L.12021ORCID,

Affiliation:

1. Victor Chang Cardiac Research Institute Sydney New South Wales Australia

2. Department of Pediatrics University of California San Francisco San Francisco California USA

3. Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital Toronto Ontario Canada

4. SYNLAB MVZ Humangenetik Mannheim Mannheim Germany

5. Genetics Program, North York General Hospital Toronto Ontario Canada

6. Department of Paediatrics University of Toronto Toronto Ontario Canada

7. Department of Clinical and Molecular Genetics Vall d'Hebron Barcelona Hospital Campus Barcelona Spain

8. Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada

9. Department of Anatomic Pathology University of California San Francisco California USA

10. Pathology and Laboratory Medicine, Mount Sinai Hospital Toronto Ontario Canada

11. The Hospital for Sick Children Toronto Ontario Canada

12. Fetal Medicine Program, Department of Obstetrics and Gynecology Mount Sinai Hospital Toronto Ontario Canada

13. Metabolic Unit and Pediatric Neurology Department Vall d'Hebron Barcelona Hospital Campus Barcelona Spain

14. Fetal Medicine Unit and Obstetrics Department Vall d'Hebron Barcelona Hospital Campus Barcelona Spain

15. Medicine Genetics Group, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona Barcelona Spain

16. Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada

17. Genome Diagnostics, Department of Paediatric Laboratory Medicine The Hospital for Sick Children Toronto Ontario Canada

18. Department of Biochemistry and Molecular Biology University of Georgia Athens Georgia USA

19. Department of Chemistry University of Georgia Athens Georgia USA

20. Faculty of Medicine University of New South Wales Sydney New South Wales Australia

21. Faculty of Science University of New South Wales Sydney New South Wales Australia

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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