Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
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Publisher
India: Medknow Publications
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Language
English
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Publisher
India: Medknow Publications
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Contents
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 tim...
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Full title
Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_13e2ffba003047e0955ef0ebe54b7300
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_13e2ffba003047e0955ef0ebe54b7300
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ISSN
0972-2327
E-ISSN
1998-3549
DOI
10.4103/0972-2327.116924
