Autosomal dominant PIK3R1 mutations cause SHORT syndrome

被引：10

作者：

Chung, B. K.

Gibson, W. T.

机构：

[1] Department of Medical Genetics, University of British Columbia, Vancouver, BC

[2] Laboratory for Obesity Genetics and Indirect Calorimetry, Child and Family Research Institute, Vancouver, BC

来源：

CLINICAL GENETICS | 2014年 / 85卷 / 03期

关键词：

D O I：

10.1111/cge.12262

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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

引用

页码：228 / 229

页数：2