Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?

作者:Vuillaume M L; Moizard M P; Hammouche E; Delrue M A; Perrin L; Maftei C; Dupont C; Drunat S; Cottereau E; Baumann C; Toutain A*
来源:Clinical Genetics, 2018, 93(5): 1111-1113.
DOI:10.1111/cge.13151