Article
Genome-wide linkage analysis combined with genome sequencing in large families with intracranial aneurysms.
European journal of human genetics : EJHG - 1 Jul 2022
Bakker Mark K, Cobyte Suze, Hennekam Frederic A M, Rinkel Gabriel J E, Veldink Jan H, Ruigrok Ynte M
Abstract excerpt
Rupture of an intracranial aneurysm (IA) leads to aneurysmal subarachnoid haemorrhage (ASAH), a severe type of stroke. Some rare variants that cause IA in families have been identified, but still, the majority of genetic causes, as well as the biological mechanisms of IA development and rupture, remain unknown. We aimed to identify rare, damaging variants for IA in three large Dutch families with multiple...
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