A Novel Frameshift Variant of the <i>ACVRL1</i> Gene in a Korean Family with Hereditary Hemorrhagic Telangiectasia Type 2: A Case Report
Beom Joon Kim, M.D., Woo Jin Shin, M.D., Hyunji Kim, M.D., Soohyun Seo, M.D., Anna Cho, M.D., Sook-Hyang Jeong, M.D., Kyoung Un Park, M.D.. Lab Med Online 2026;16:258-63. https://doi.org/10.47429/lmo.2026.16.3.258
Authors
- Kyoung Un Park (ORCID: https://orcid.org/0000-0002-2402-7633)
- Soohyun Seo
- Sook‐Hyang Jeong (ORCID: https://orcid.org/0000-0002-4916-7990)
- Hyunji Kim (ORCID: https://orcid.org/0000-0003-3548-0254)
- Woo Jin Shin (ORCID: https://orcid.org/0009-0001-5521-3308)
- Anna Cho
- Beom Joon Kim
Institutions
- Seoul National University Bundang Hospital (KR)
Publication Details
- Journal
- Laboratory Medicine Online
- Published
- 2026-06-25
- DOI
- https://doi.org/10.47429/lmo.2026.16.3.258
- Primary Topic
- Vascular Anomalies and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00