Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
神经元细胞粘附分子的双等位基因变异会导致神经发育障碍，其特征是发育迟缓、肌张力低下、神经病变/痉挛
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.01.004
Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, Morasha Plesser Duvdevani, Tamar Harel, Luna Tammer, Baozhong Xin, Somayeh Bakhtiari, James Rice, Clare L van Eyk, Jozef Gecz, Jean K Mah, Derek Atkinson, Heidi Cope, Jennifer A Sullivan, Alon M Douek, Daniel Colquhoun, Jason Henry, Donald Wl
