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Article

Molecular insights into the comorbidity of vitamin K-dependent clotting factor deficiency and chondrodysplasia punctata.

Journal of thrombosis and haemostasis : JTH - 1 Dec 2025

Jin Da-Yun, Chen Xuejie, Wang Mengying, Qi Xiaofeng, Stafford Darrel W, Lewis Sara, Weiss Mitchell J, Reiss Ulrike M, Tie Jian-Ke

Abstract excerpt

BACKGROUND: Autosomal recessive mutations in genes encoding vitamin K cycle enzymes cause hereditary vitamin K-dependent clotting factor deficiency, a disorder characterized by excessive bleeding and a spectrum of nonbleeding phenotypes. While high-dose vitamin K therapy can partially or fully correct coagulopathy, its effect on nonbleeding symptoms is limited. OBJECTIVES: To investigate the molecular basis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40876756
DOI: 10.1016/j.jtha.2025.08.011
PMCID: PMC13455504

Genes

GGCX

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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