Article
BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.
Clinical genetics - 1 Mar 2025
Venema Myrrhe, Albuainain Fatimah, Schot Rachel, Roozenbeek Bob, Sleutels Frank, van Ham Tjakko, Barakat Tahsin Stefan
Abstract excerpt
Moyamoya angiopathy is a cerebral vasculopathy causing progressive stenosis of the internal carotid arteries and the compensatory development of collateral blood vessels, leading to brain ischemia and an increased risk of cerebral haemorrhage. Although multiple non-genetic causes have been associated with moyamoya syndrome, it can also be associated with rare genetic syndromes. Moyamoya Disease 4, characterised...
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