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June 1, 2024

[Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and p.Gly542Ser of

Xiaoli Cheng Ting Yang Yang Liu Yijuan Xin Mu He Lin Zhu Jiayun Liu

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Abstract

To analyze the clinical phenotype and gene mutation of a genetic coagulation factor XII (FXII) deficiency pedigree and explore the molecular pathogenesis.

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Cite This Study

Cheng et al. (2024) studied this question.

synapsesocial.com/papers/68e672e6b6db6435875fdbef https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.033

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Clinical heterogeneity in congenital factor <scp>XII</scp> deficiency: Coexisting risk factors in thrombotic and bleeding eventsOriginal Research · 2026
2Molecular and clinical characterization of a pedigree with factor XI deficiency, including a novel missense variant (p.Cys200Phe): a case reportCase Report · 2026
3[Genetic analysis of a Chinese pedigree affected with Hereditary coagulation factor XI deficiency due to homozygous p.Thr299Ser variants of F11 gene].2025
4ClinGen Bayesian-Framework-Guided Interpretation of Compound Heterozygous F12 Variants in a Pregnant Woman with Factor XII Deficiency: A Case ReportCase Report · 2026
5Severe Factor XII Deficiency in a Patient with Spontaneous Coronary Artery DissectionOriginal Research · 2026

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