MAGEL2 ‐related disorders: A study and case series

Author:

Patak Jameson123ORCID,Gilfert James1,Byler Melissa1,Neerukonda Vamsee1,Thiffault Isabelle456ORCID,Cross Laura56,Amudhavalli Shivarajan56,Pacio‐Miguez Marta7,Palomares‐Bralo Maria78,Garcia‐Minaur Sixto78,Santos‐Simarro Fernando78,Powis Zoe9ORCID,Alcaraz Wendy9,Tang Sha9,Jurgens Julie101112,Barry Brenda101112,England Eleina13,Engle Elizabeth1011121415,Hess Jonathon2,Lebel Robert R.1

Affiliation:

1. Division of Development, Behavior and GeneticsSUNY Upstate Medical University Syracuse New York

2. Department of Neuroscience and PhysiologyUpstate Medical University Syracuse New York

3. MD Program, College of MedicineSUNY Upstate Medical University Syracuse New York

4. Center for Pediatric Genomic MedicineChildren's Mercy Kansas City Kansas City Missouri

5. Department of Pathology & GeneticsChildren's Mercy Hospitals Kansas City Missouri

6. Kansas City School of MedicineUniversity of Missouri Kansas City Missouri

7. Instituto de Genética Médica y Molecular (INGEMM)Hospital Universitario La Paz, IdiPaz Madrid Spain

8. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)Instituto de Salud Carlos II (ISCIII) Madrid Spain

9. Ambry Genetics Corporation Aliso Viejo California

10. Department of NeurologyBoston Children's Hospital Boston Massachusetts

11. FM Kirby Neurobiology CenterBoston Children's Hospital Boston Massachusetts

12. Howard Hughes Medical Institute Chevy Chase Maryland

13. Center for Mendelian Genomics and Medical and Population Genetics ProgramBroad Institute of MIT and Harvard Cambridge Massachusetts

14. Department of OphthalmologyBoston Children's Hospital Boston Massachusetts

15. Department of NeurologyHarvard Medical School Boston Massachusetts

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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