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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… Click to show full 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 development.
Keywords:
agenesis;
recessive mutations;
homeobox gene;
caused recessive;
basal ganglia
Journal Title: Brain
Year Published: 2019
Link to full text (if available)
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Journal Title: Brain
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!