Article
[Clinical phenotypes and genotypes of congenital fibrinogen disorder: an analysis of 16 children].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Aug 2024
Wang Min, Chen Tian-Ping, Jiang Ao-Shuang, Zhao Ying-Hui, Zhu Cheng-Lin, Wei Nan, Jin Yu-Ting, Qu Li-Jun
Abstract excerpt
OBJECTIVES: To investigate the clinical phenotypes and genotypes of children with congenital fibrinogen disorder (CFD). METHODS: A retrospective analysis was conducted on the clinical data of 16 children with CFD. Polymerase chain reaction was used to amplify all exons and flanking sequences of the FGA, FGB, and FGG genes, and sequencing was performed to analyze mutation characteristics. RESULTS: Among the 16...
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