A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia
ACAA2基因的一种复发性变异会导致一种显性遗传综合征,其特征为脂肪营养不良、脂肪瘤病、婴儿脂肪性肝炎和低血糖症。
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI198888
Simha, Vinaya; LoPiccolo, Mary Kate; Platt, Anna; Brown, Rebecca J; Johnson, Xandria; Carere, Deanna Alexis; Donnelly, Colleen; Snyder, Matthew T; Xing, Chao; Mathews, Thomas P; Gopal, Purva; Ward, Stephen C; Tomchick, Diana R; Agarwal, Anil K; DeBerardinis, Ralph J; Garg, Abhimanyu