Twins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome

Jaewoong Lee; Jong-Mi Lee; Hoon Seok Kim; Jin Jung; Yonggoo Kim; Suk Young Park; Myungshin Kim; Eunhee Han

doi:10.3343/alm.2023.0375

Twins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome

Ann Lab Med. 2024 May 1;44(3):299-302. doi: 10.3343/alm.2023.0375. Epub 2023 Dec 28.

Authors

Jaewoong Lee¹, Jong-Mi Lee², Hoon Seok Kim², Jin Jung², Yonggoo Kim², Suk Young Park³, Myungshin Kim², Eunhee Han⁴

Affiliations

¹ Department of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
² Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
³ Department of Oncology-Hematology, Konyang University Hospital, Daejeon, Korea.
⁴ Department of Laboratory Medicine, Daejeon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Humans
Integrin beta3 / genetics
Mutation
Thrombasthenia* / diagnosis
Thrombasthenia* / genetics

Substances

Integrin beta3
ITGB3 protein, human

Grants and funding

RESEARCH FUNDING This research was supported by the Bio & Medical Technology Development Program of the National Research Foundation (NRF-2020M3E5D7085175), funded by the Ministry of Health and Welfare, Ministry of Science and ICT, Ministry of Trade Industry and Energy, Korea Disease Control and Prevention Agency (The National Project of Bio Big Data) and National Research Foundation (NRF-2020R1F1A1068437) funded by the Ministry of Science and ICT.