ArticleBrain circulation
Moyamoya syndrome in a patient with pathogenic heterozygous variant in the
Article in Brain circulation. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
A 25-year-old patient with dysmorphic facies presented with tingling in both hands and a speech disorder that occurred for a few hours approximately once a month since the age of 12 years. A magnetic resonance angiography of the brain showed signs of a bilateral moyamoya phenomenon with distal carotid artery occlusions with significant collateral vessel formation and bilateral posterior cerebral artery occlusions. In addition, there was an extracranial, nonatherosclerotic carotid artery stenosis. Genetic testing identified a heterozygous
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