title: Autosomal dominant PIK3R1 mutations cause SHORT syndrome.
abstract: PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Thauvin-Robinet et al. (2013) The American Journal of Human Genetics 93: 141-149 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signalling. Chudasama et al. (2013) The American Journal of Human Genetics 93: 150-157 Mutations in PIK3R1 cause SHORT syndrome. Dyment et al. (2013) The American Journal of Human Genetics 93: 158-166.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada; Laboratory for Obesity Genetics and Indirect Calorimetry, Child & Family Research Institute, Vancouver, BC, V5Z 4H4, Canada.
authors.forename: B K
authors.initials: BK
authors.lastname: Chung
authors.forename: W T
authors.initials: WT
authors.lastname: Gibson
mesh_terms: D058543:Class Ia Phosphatidylinositol 3-Kinase / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000276:immunology*; D005260:Female; D016368:Frameshift Mutation; D006130:Growth Disorders / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000276:immunology*; D006684:HLA-DR Antigens / Q000276:immunology*; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D007333:Insulin Resistance / Q000235:genetics*; D008297:Male; D008659:Metabolic Diseases / Q000235:genetics*; D009397:Nephrocalcinosis / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000378:metabolism*
chemical_list: D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; D019869:Phosphatidylinositol 3-Kinases; D058543:Class Ia Phosphatidylinositol 3-Kinase