Article
Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation.
Molecular genetics & genomic medicine - 1 Oct 2021
Choksi Foram, Weinsheimer Shantel, Nelson Jeffrey, Pawlikowska Ludmila, Fox Christine K, Zafar Atif, Mabray Marc C, Zabramski Joseph, Akers Amy, Hart Blaine L, Morrison Leslie, McCulloch Charles E, Kim Helen
Abstract excerpt
BACKGROUND: To investigate whether common variants in EPHB4 and RASA1 are associated with cerebral cavernous malformation (CCM) disease severity phenotypes, including intracranial hemorrhage (ICH), total and large lesion counts. METHODS: Familial CCM cases enrolled in the Brain Vascular Malformation Consortium were included (n = 338). Total lesions and large lesions (≥5 mm) were counted on MRI; clinical history...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Alleles
- Child
- Child, Preschool
- Cross-Sectional Studies
- Female
- Genetic Association Studies