Corpus callosum agenesis, severe mental
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Valerio Conti; Carla Marini; Simone Gana; Jyotsna Sudi; William B. Dobyns; Renzo
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Article
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2011
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John Wiley and Sons
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English
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We report on a patient with agenesis of the corpus callosum (ACC), severe mental retardation, infantile spasms and subsequent intractable epilepsy, spastic/dyskinetic quadriparesis, severe limb contractures, and scoliosis. This complex, newly described phenotype, is due to a novel non-conservative m