Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome

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 he...

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Detalles Bibliográficos
Autores principales: Desai, Jay, Rosser, Tena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788299/
https://www.ncbi.nlm.nih.gov/pubmed/24101835
http://dx.doi.org/10.4103/0972-2327.116924
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author Desai, Jay
Rosser, Tena
author_facet Desai, Jay
Rosser, Tena
author_sort Desai, Jay
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description 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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spelling pubmed-37882992013-10-07 Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome Desai, Jay Rosser, Tena Ann Indian Acad Neurol Case Report 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. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3788299/ /pubmed/24101835 http://dx.doi.org/10.4103/0972-2327.116924 Text en Copyright: © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Desai, Jay
Rosser, Tena
Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
title Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
title_full Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
title_fullStr Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
title_full_unstemmed Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
title_short Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
title_sort spontaneous evolution of an unusual cortical malformation in sox2 anophthalmia syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788299/
https://www.ncbi.nlm.nih.gov/pubmed/24101835
http://dx.doi.org/10.4103/0972-2327.116924
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