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-  2019 

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

DOI: https://doi.org/10.1016/j.neuron.2018.11.041

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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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