De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplas...
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia
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Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
We report an 8-year-old boy with a complex cerebral malformation, intellectual disability, and complex partial seizures. Whole-exome sequencing revealed a yet unreported de novo variant in the PIK3R2 gene that was recently associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome and bilateral perisylvian polymicrogyri...
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Full title
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4989218
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4989218
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2016.7
