A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

Author:

Hussain Iram1,Patni Nivedita2,Ueda Masako3,Sorkina Ekaterina45,Valerio Cynthia M6,Cochran Elaine7,Brown Rebecca J7,Peeden Joseph8,Tikhonovich Yulia4,Tiulpakov Anatoly4,Stender Sarah R S9,Klouda Elisabeth10,Tayeh Marwan K11,Innis Jeffrey W12,Meyer Anders13,Lal Priti13,Godoy-Matos Amelio F6,Teles Milena G14,Adams-Huet Beverley15,Rader Daniel J3,Hegele Robert A16,Oral Elif A17,Garg Abhimanyu18

Affiliation:

1. Division of Endocrinology, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas

2. Division of Pediatric Endocrinology, Department of Pediatrics, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas

3. Division of Translational Medicine and Human Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

4. Endocrinology Research Centre, Moscow, Russia

5. Laboratory of Molecular Endocrinology, Medical Scientific Educational Centre, Lomonosov Moscow State University, Moscow, Russia

6. Division of Metabology, State Institute of Diabetes and Endocrinology, Rio de Janeiro, Brazil

7. National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland

8. East Tennessee Children’s Hospital, University of Tennessee Department of Medicine, Knoxville, Tennessee

9. Department of Pediatrics, University of California San Francisco–Fresno, Fresno, California

10. University of Tennessee College of Medicine, Memphis, Tennessee

11. Division of Pediatric Genetics, Metabolism and Genomic Medicine, Division of Genetics, Metabolism and Genomic Medicine and Department of Human Genetics, University of Michigan, Ann Arbor, Michigan

12. Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan

13. Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

14. Monogenic Diabetes Group, Genetic Endocrinology Unit (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil

15. Department of Clinical Sciences, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas

16. Department of Medicine, Western University, London, Ontario, Canada

17. Metabolism, Endocrinology and Diabetes Division, Department of Internal of Medicine, Brehm Center for Diabetes, University of Michigan, Ann Arbor, Michigan

18. Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

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