Article
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
Journal of medical genetics - 1 May 2020
Aloui Chaker, Guey Stéphanie, Pipiras Eva, Kossorotoff Manoelle, Guéden Sophie, Corpechot Michaelle, Bessou Pierre, Pedespan Jean-Michel, Husson Marie, Hervé Dominique, Riant Florence, Kraemer Markus, Steffann Julie, Quenez Olivier, Tournier-Lasserve Elisabeth
Abstract excerpt
BACKGROUND: The molecular anomalies causing moyamoya disease (MMD) and moyamoya syndromes (MMS) are unknown in most patients. OBJECTIVE: This study aimed to identify de novo candidate copy number variants (CNVs) in patients with moyamoya. METHODS: Rare de novo CNVs screening was performed in 13 moyamoya angiopathy trios using whole exome sequencing (WES) reads depth data and whole genome high density SNP array...
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