SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

The American Journal of Human Genetics - Tập 93 - Trang 150-157 - 2013
Kishan Kumar Chudasama1,2, Jonathon Winnay3, Stefan Johansson1,2, Tor Claudi4, Rainer König5, Ingfrid Haldorsen6, Bente Johansson1, Ju Rang Woo3, Dagfinn Aarskog1, Jørn V. Sagen1,7,8, C. Ronald Kahn3, Anders Molven1,3,6,9, Pål Rasmus Njølstad1,10,11
1K.G. Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, N-5020 Bergen, Norway
2Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N-5021 Bergen, Norway
3Joslin Diabetes Center, Harvard Medical School, Boston, MA 02215 USA
4Department of Medicine, Nordlandssykehuset, N-8092 Bodø, Norway
5Department of Human Genetics, University of Frankfurt, G-60325 Frankfurt, Germany
6Department of Clinical Medicine, University of Bergen, N-5020, Bergen, Norway
7Department of Clinical Science, University of Bergen, N-5020 Bergen, Norway
8Hormone Laboratory, Haukeland University Hospital, N-5021 Bergen, Norway
9Department of Pathology, Haukeland University Hospital, N-5021, Bergen, Norway
10Department of Pediatrics, Haukeland University Hospital, N-5021 Bergen, Norway
11Medical and Population Genetics Program, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA

Tài liệu tham khảo

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