Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M.
Accogli A, et al.
Neurogenetics. 2019 May;20(2):103-108. doi: 10.1007/s10048-019-00572-7. Epub 2019 Mar 28.
Neurogenetics. 2019.
PMID: 30924036