Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Narishige Y, Yaoita H, Shibuya M, Ikeda M, Kodama K, Kawashima A, Okubo Y, Endo W, Inui T, Togashi N, et al. Tohoku J Exp Med. 2022 Apr 29; 256(4):321-326. Epub 2022 Mar 24.