New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

We report on 4 generations in a family with 3 living males, 3 males who died in infancy, and 3 females with neurologic impairment and agenesis of the corpus callosum (ACC). Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis,...

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Veröffentlicht in:American journal of medical genetics 1992-04, Vol.43 (1-2), p.458-466
Hauptverfasser: Proud, Virginia K., Levine, Clive, Carpenter, Nancy J.
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Sprache:eng
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