Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

doi:10.1038/s41431-018-0137-z

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Article

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

European journal of human genetics : EJHG - 1 Aug 2018

Wiszniewski Wojciech, Gawlinski Pawel, Gambin Tomasz, Bekiesinska-Figatowska Monika, Obersztyn Ewa, Antczak-Marach Dorota, Akdemir Zeynep Hande Coban, Harel Tamar, Karaca Ender, Jurek Marta, Sobecka Katarzyna, Nowakowska Beata, Kruk Malgorzata, Terczynska Iwona, Goszczanska-Ciuchta Alicja, Rudzka-Dybala Mariola, Jamroz Ewa, Pyrkosz Antoni, Jakubiuk-Tomaszuk Anna, Iwanowski Piotr, Gieruszczak-Bialek Dorota, Piotrowicz Malgorzata, Sasiadek Maria, Kochanowska Iwona, Gurda Barbara, Steinborn Barbara, Dawidziuk Mateusz, Castaneda Jennifer, Wlasienko Pawel, Bezniakow Natalia, Jhangiani Shalini N, Hoffman-Zacharska Dorota, Bal Jerzy, Szczepanik Elzbieta, Boerwinkle Eric, Gibbs Richard A, Lupski James R

Abstract excerpt

Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture of patients with disorders of cerebral cortical development, a cohort of 54 patients demonstrating neuroradiologic signs of MCDs was investigated. Individual...

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PMID: 29706646
DOI: 10.1038/s41431-018-0137-z
PMCID: PMC6057976

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ASTN1
CDH4

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