A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation
一种由复发性杂合LMNA p.T10I突变引起的新型全身性脂肪营养不良相关早衰综合征
期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/jc.2017-02078
Hussain, Iram; Patni, Nivedita; Ueda, Masako; Sorkina, Ekaterina; Valerio, Cynthia M; Cochran, Elaine; Brown, Rebecca J; Peeden, Joseph; Tikhonovich, Yulia; Tiulpakov, Anatoly; Stender, Sarah R S; Klouda, Elisabeth; Tayeh, Marwan K; Innis, Jeffrey W; Meyer, Anders; Lal, Priti; Godoy-Matos, Amelio F; Teles, Milena G; Adams-Huet, Beverley; Rader, Daniel J; Hegele, Robert A; Oral, Elif A; Garg, Abhimanyu