Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy
Huifang Yan, Guy Helman, Swetha E. Murthy, Haoran Ji, Joanna Crawford, Thomas Kubisiak, Stephen J. Bent, Jiangxi Xiao, Ryan J. Taft, Adam M. Coombs, Ye Wu, Ana Pop, Dongxiao Li, Linda S. de Vries, Yuwu Jiang, , Nicole I. Wolf
This study identifies heterozygous TMEM63A variants causing transient hypomyelination in infancy, with clinical improvement over time.
The American Journal of Human Genetics · Oct 3, 2019Peer-reviewedGenomics