Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.
Won Young HeoShin Yi JangTaek Kyu ParkChange Seok KiJong Won KimDuk-Kyoung KimJa Hyun JangPublished in: Molecular genetics & genomic medicine (2023)
Our study highlights the necessity of a comprehensive approach to the genetic diagnosis of vEDS. In addition, cDNA sequencing was useful as an auxiliary method, especially considering the limited sensitivity of the splicing prediction tool.