Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome
HMGA2 变异体的特征分析扩展了 Silver-Russell 综合征的谱系。
期刊:JCI Insight
影响因子:6.3
doi:10.1172/jci.insight.169425
Avinaash V Maharaj ,Emily Cottrell ,Thatchawan Thanasupawat ,Sjoerd D Joustra ,Barbara Triggs-Raine ,Masanobu Fujimoto ,Sarina G Kant ,Danielle van der Kaay ,Agnes Clement-de Boers ,Alice S Brooks ,Gabriel Amador Aguirre ,Irene Martín Del Estal ,María Inmaculada Castilla de Cortázar Larrea ,Ahmed Massoud ,Hermine A van Duyvenvoorde ,Christiaan De Bruin ,Vivian Hwa ,Thomas Klonisch ,Sabine Hombach-Klonisch ,Helen L Storr