Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2
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 mutations in GSX2, a homeobox gene expressed in ganglionic eminences and essential for basal ganglia...
Paper Details
Title
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2
Published Date
Aug 14, 2019
Journal
Volume
142
Issue
10
Pages
2965 - 2978
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Notes
History