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Article

Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.

Journal of the American Heart Association - 6 Aug 2024

Cho Bernard P H, Auckland Kate, Gräf Stefan, Markus Hugh S

Abstract excerpt

BACKGROUND: Cerebral small-vessel disease (cSVD) is the leading monogenic cause of stroke. Despite genetic screening in routine diagnosis, many cases remain without a known causative variant. Using a cohort with suspected familial cSVD and whole-genome sequencing, we screened for variants in genes associated with monogenic cSVD and searched for novel variants associated with the disease. METHODS AND RESULTS: Rare...

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Source

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Identifiers

PMID: 39082428
DOI: 10.1161/JAHA.123.035771
PMCID: PMC11964016

Genes

FAM20C
INHA
LAMC1
VWA5B2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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