Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC.
Wan J, et al. Among authors: steffen j.
Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212.
Brain. 2016.
PMID: 27543974
Free PMC article.