Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis
PPP2R5D 相关神经发育障碍的临床、神经影像学和分子特征：具有功能特征和基因型-表型分析的扩展系列
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmg-2022-108713
Nora Oyama #, Pieter Vaneynde #, Sara Reynhout, Emily M Pao, Andrew Timms, Xiao Fan, Kimberly Foss, Rita Derua, Veerle Janssens #, Wendy Chung #, Ghayda M Mirzaa #
