Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

Mid-hindbrain malformations can occur during embryogenesis through a disturbance of transient and localized gene expression patterns within these distinct brain structures. Rho guanine nucleotide exchange factor (ARHGEF) family members are key for controlling the spatiotemporal activation of Rho GTP...

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Bibliographic Details
Main Authors: Ethiraj Ravindran, Hao Hu, Scott A Yuzwa, Luis R Hernandez-Miranda, Nadine Kraemer, Olaf Ninnemann, Luciana Musante, Eugen Boltshauser, Detlev Schindler, Angela Hübner, Hans-Christian Reinecker, Hans-Hilger Ropers, Carmen Birchmeier, Freda D Miller, Thomas F Wienker, Christoph Hübner, Angela M Kaindl
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-04-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5428974?pdf=render

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http://europepmc.org/articles/PMC5428974?pdf=render

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