Carmona, S;
Marecos, C;
Amorim, M;
Ferreira, AC;
Conceição, C;
Brás, J;
Duarte, ST;
(2018)
AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria.
Neurology Genetics
, 4
(5)
, Article e273. 10.1212/NXG.0000000000000273.