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Novel and known fibrinogen gene mutations in Chinese pediatric patients with congenital dysfibrinogenemia: genetic and functional characterization.

Clinical biochemistry - 1 Jan 2026

Huang Juan, Wang Duocai, Wang Ying, Yang Yongqiang, Peng Dong, Luo Meizhu, Fu Xiaoying

Abstract excerpt

OBJECTIVES: Congenital dysfibrinogenemia (CD) is a rare inherited disorder caused by qualitative abnormalities in fibrinogen, leading to discordance between functional and antigenic fibrinogen levels. Genetic testing plays a pivotal role in confirming diagnosis and elucidating phenotypic heterogeneity. This study aims to emphasize the diagnostic value of combining coagulation assays with genetic testing and...

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Identifiers

PMID: 41344552
DOI: 10.1016/j.clinbiochem.2025.111064

Genes

FGG
FGA
FGB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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