Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
404 名因 CTNNB1 变异导致神经发育障碍的患者的基因组和表型特征
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1016/j.gim.2022.08.006
Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard, Wendy K Chung, Michael C Kruer, Mira Kharbanda, David J Amor, George McGillivray, Julie S Cohen, Sixto García-Miñaúr, Clare L van Eyk, Kelly Harper, Lachlan A Jolly, Dani L Webber, Christopher P Barnett, Fernando San