Twins With an Identical Novel Mutation in <i>ITGB3</i>: A Case Report of Glanzmann Thrombasthenia

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

Published:2023-12-28 Issue:3 Volume:44 Page:299-302
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Lee Jaewoong¹^ORCID,Lee Jong-Mi²^ORCID,Kim Hoon Seok²^ORCID,Jung Jin²^ORCID,Kim Yonggoo²^ORCID,Park Suk Young³^ORCID,Kim Myungshin²^ORCID,Han Eunhee⁴^ORCID

Affiliation:

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

Funder

National Research Foundation of Korea

Ministry of Health and Welfare

Ministry of Science and ICT

Ministry of Trade Industry and Energy

Korea Disease Control and Prevention Agency

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://pdf.medrang.co.kr/ALM/2024/044/alm-44-3-299.pdf

Reference10 articles.

1. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models

2. αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4. Structural basis of transmembrane domain interactions in integrin signaling

5. Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia