Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
Simon Edvardson, Vito Porcelli, Chaim Jalas, Devorah Soiferman, Yuval Kellner, Avraham Shaag, Stanley H Korman, Ciro Leonardo Pierri, Pasquale Scarcia, Nitay D Fraenkel, Reeval Segel, Abraham Schechter, Ayala Frumkin, Ophry Pines, Ann Saada, Luigi Palmieri, Orly Elpeleg
Journal of Medical Genetics Apr 2013, 50 (4) 240-245; DOI: 10.1136/jmedgenet-2012-101485