Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2
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DOI: 10.1093/brain/awz247
Abstract: Congenital malformations of the basal ganglia are rare. De Mori et al. describe a novel syndrome of severe dystonic tetraparesis and intellectual impairment, with hypo/agenesis of the basal ganglia. The syndrome is caused by recessive… read more here.
Keywords: agenesis; recessive mutations; homeobox gene; caused recessive ... See more keywords