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Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Clinical and brain imaging heterogeneity of severe microcephaly.
Machine Learning and Clinical Informatics for Improving HIV Care Continuum Outcomes.
Genetic and neuroradiological heterogeneity of double cortex syndrome.
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Genetic and neuroradiological heterogeneity of double cortex syndrome.
Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb; 47(2):265-9.
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PubMed
subject areas
Adolescent
Adult
Brain
Cerebral Cortex
Child
Child, Preschool
Female
Humans
Magnetic Resonance Imaging
Microtubule-Associated Proteins
Mutation
Neuropeptides
authors with profiles
Peter Huttenlocher
William B. Dobyns