Journal
ANNALS OF NEUROLOGY
Volume 53, Issue 5, Pages 658-663Publisher
WILEY-BLACKWELL
DOI: 10.1002/ana.10576
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Funding
- MRC [MC_U127527199] Funding Source: UKRI
- Medical Research Council [MC_U127527199] Funding Source: researchfish
- Medical Research Council [MC_U127527199] Funding Source: Medline
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Identification of genes involved in human cerebral development is important for our understanding of disorders with potential neurodevelopmental causes such as epilepsy and learning disability. Murine models suggest that PAX6 plays a key role in human brain development. With magnetic resonance imaging in 24 humans heterozygous for defined PAX6 mutations, we demonstrated widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria.
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