ClinGen Bayesian-Framework-Guided Interpretation of Compound Heterozygous F12 Variants in a Pregnant Woman with Factor XII Deficiency: A Case Report
This case highlights that early integration of next-generation sequencing and quantitative variant interpretation frameworks can facilitate timely diagnosis, clarify clinical significance, and support appropriate management in patients with unexplained isolated aPTT prolongation.
Authors
- Kyung Park (ORCID: https://orcid.org/0000-0001-6714-6619)
- Ha-eun Cho (ORCID: https://orcid.org/0000-0003-0271-8342)
Institutions
- Kyung Hee University (KR)
- Kyung Hee University Medical Center (KR)
Publication Details
- Journal
- Diagnostics
- Published
- 2026-04-16
- DOI
- https://doi.org/10.3390/diagnostics16081180
- Primary Topic
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Type
- article
- Field-Weighted Citation Impact
- 0.00