Article
Whole-exome sequencing of Finnish patients with vascular cognitive impairment.
European journal of human genetics : EJHG - 1 Apr 2021
Mönkäre Saana, Kuuluvainen Liina, Kun-Rodrigues Celia, Carmona Susana, Schleutker Johanna, Bras Jose, Pöyhönen Minna, Guerreiro Rita, Myllykangas Liisa
Abstract excerpt
Cerebral small vessel disease (CSVD) is the most important cause of vascular cognitive impairment (VCI). Most CSVD cases are sporadic but familial monogenic forms of the disorder have also been described. Despite the variants identified, many CSVD cases remain unexplained genetically. We used whole-exome sequencing in an attempt to identify novel gene variants underlying CSVD. A cohort of 35 Finnish patients with...
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