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- 2019
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen MalformationDOI: https://doi.org/10.1016/j.neuron.2018.11.041 Abstract: ? Exome sequencing identifies genetic drivers of vein of Galen malformations (VOGMs) ? Mutations in chromatin modifier and Ephrin genes account for ~30% of VOGM cases ? Probands often exhibit vasculo-cutaneous lesions, suggesting a two-hit mechanism ? These data implicate impaired arterio-venous specification in VOGM pathogenesi
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