Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

Author:

Rubio‐Cabezas Oscar123,Puri Vishwajeet4,Murano Incoronata5,Saudek Vladimir6,Semple Robert K.6,Dash Satya6,Hyden Caroline S. S.6,Bottomley William7,Vigouroux Corinne8910,Magré Jocelyne89,Raymond‐Barker Philippa11,Murgatroyd Peter R.11,Chawla Anil4,Skepper Jeremy N.12,Chatterjee V. Krishna6,Suliman Sara13,Patch Ann‐Marie14,Agarwal Anil K.15,Garg Abhimanyu15,Barroso Inês7,Cinti Saverio5,Czech Michael P.4,Argente Jesús123,O'Rahilly Stephen6,Savage David B.6,

Affiliation:

1. Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain

2. Department of Pediatrics, Universidad Autónoma de Madrid; Madrid, Spain

3. CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain

4. Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA, USA

5. Institute of Normal Human Morphology, University of Ancona, Ancona, Italy

6. Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK

7. Metabolic Disease Group, The Wellcome Trust Sanger Institute, Hinxton, UK

8. UPMC Univ Paris 06, UMR_S938, Paris, France

9. INSERM, UMR_S938, Faculté de Médecine Pierre et Marie Curie, Site Saint‐Antoine, Paris, France

10. AP‐HP, Hôpital Tenon, Service de Biochimie et Hormonologie, Paris, France

11. Wellcome Trust Clinical Research Facility, Addenbrooke's Hospital, Cambridge, UK

12. Multi‐imaging Centre, Physiology Development & Neuroscience, University of Cambridge, Cambridge, UK

13. Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, Oxford, UK

14. Institute of Biomedical and Clinical Science (AM.P.), Peninsula Medical School, Exeter, UK

15. Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA

Publisher

EMBO

Subject

Molecular Medicine

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