The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
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DOI: 10.1038/s41436-019-0639-2
Abstract: Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do… read more here.
Keywords: mma; novo variants; cnot3 setd5; disease ... See more keywords