CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

Author:

Mizumoto Shuji12,Janecke Andreas R.34ORCID,Sadeghpour Azita5,Povysil Gundula6,McDonald Marie T.7,Unger Sheila8,Greber‐Platzer Susanne9,Deak Kristen L.10,Katsanis Nicholas51112ORCID,Superti‐Furga Andrea13,Sugahara Kazuyuki1,Davis Erica E.51112ORCID,Yamada Shuhei1,Vodopiutz Julia9ORCID

Affiliation:

1. Department of Pathobiochemistry, Faculty of PharmacyMeijo University Nagoya Japan

2. Department of Women's and Children's Health, Clinical Genetics Group, Dunedin School of MedicineUniversity of Otago Dunedin New Zealand

3. Department of Pediatrics IMedical University of Innsbruck Innsbruck Austria

4. Division of Human GeneticsMedical University of Innsbruck Innsbruck Austria

5. Center for Human Disease ModelingDuke University Medical Center Durham North Carolina

6. Institute of BioinformaticsJohannes Kepler University Linz Austria

7. Department of Pediatrics, Division of Medical GeneticsDuke University Medical Center Durham North Carolina

8. Department of Medical Genetics, Centre Hospitalier Universitaire VaudoisUniversity of Lausanne Lausanne Switzerland

9. Department of Pediatrics and Adolescent Medicine, Comprehensive Center for PediatricsMedical University of Vienna Vienna Austria

10. Department of PathologyDuke University Medical Center Durham North Carolina

11. Advanced Center for Translational and Genetic Medicine (ACT‐GeM), Stanley Manne Children's Research InstituteAnn & Robert H. Lurie Children's Hospital of Chicago Chicago Illinois

12. Department of Pediatrics, Feinberg School of MedicineNorthwestern University Chicago Illinois

13. Department of Pediatrics, Centre Hospitalier Universitaire VaudoisUniversity of Lausanne Lausanne Switzerland

Funder

NIH Clinical Center

Japan Society for the Promotion of Science

Takeda Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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