Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm.
Yunsun SongJong-Keuk LeeJin-Ok LeeBoseong KwonEul-Ju SeoDae Chul SuhPublished in: Korean journal of radiology (2021)
Using WES, we found that rare, potentially deleterious variants in PLOD3, NTM, and CHST14 genes are likely responsible for the subsets of FIAs in a cohort of Korean families.