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Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome

Authors
Journal
Annals of Indian Academy of Neurology
0972-2327
Publisher
Medknow Publications
Publication Date
Volume
16
Issue
3
Identifiers
DOI: 10.4103/0972-2327.116924
Keywords
  • Case Report

Abstract

Brain malformations such as agenesis and dysgenesis of corpus callosum, pituitary hypoplasia, hypothalamic hamartoma, mesial temporal periventricular heterotopia, and abnormally oriented and misshapen hippocampi have been described with SOX2 gene mutations. A neocortical malformation is presented here in association with SOX2 deletion that over time underwent spontaneous evolution and decrease in size.

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