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Article

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

Journal of medical genetics - 1 Apr 2013

Edvardson Simon, Porcelli Vito, Jalas Chaim, Soiferman Devorah, Kellner Yuval, Shaag Avraham, Korman Stanley H, Pierri Ciro Leonardo, Scarcia Pasquale, Fraenkel Nitay D, Segel Reeval, Schechter Abraham, Frumkin Ayala, Pines Ophry, Saada Ann, Palmieri Luigi, Elpeleg Orly

Abstract excerpt

BACKGROUND: Agenesis of corpus callosum has been associated with several defects of the mitochondrial respiratory chain and the citric acid cycle. We now report the results of the biochemical and molecular studies of a patient with severe neurodevelopmental disease manifesting by agenesis of corpus callosum and optic nerve hypoplasia. METHODS AND RESULTS: A mitochondrial disease was suspected in this patient...

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PMID: 23393310
DOI: 10.1136/jmedgenet-2012-101485

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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