Evidence map›Paper›PMID 40673203›Full record

ArticleFrontiers in pediatrics2025

Case Report: Two children with factor XII deficiency caused by novel

Rui-Xue Ma, Hai-Yan Li, Yi-Hang Zhang, Xue-Min Zhang, Yan-Juan Chen, Yi-Lin Dai, Gui-Xian Li, Wen-Hai Luo, Jie Zhang, Yun-Fen Tian

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Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

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No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Rui-Xue Ma *College of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.
Hai-Yan Li *Department of Pediatrics, The First People's Hospital of Anning City, Anning, Yunnan, China.
Yi-Hang Zhang *West China School of Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Xue-Min ZhangCollege of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.
Yan-Juan ChenCollege of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.
Yi-Lin DaiCollege of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.
Gui-Xian LiCollege of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.
Wen-Hai LuoCollege of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.
Jie ZhangDepartment of Medical Genetics, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China.
Yun-Fen TianDepartment of Pediatrics, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Factor XII (FXII) deficiency (OMIM 234000) is a rare hereditary coagulation disorder caused by pathogenic variants within the Case presentation: Here, we reported two pediatric cases with FXII deficiency from Kunming, China. Patient 1 was a 10-year-old girl who was hospitalized with a fever and cough for one week and diagnosed with pneumonia. Auxiliary coagulation function examination suggested that the activated partial thrombin time (APTT) was significantly prolonged, while both the coagulation factor XII activity (FXII:C) and coagulation factor XII antigen (FXII:Ag) were decreased. Whole exome sequencing (WES) revealed this patient carries Conclusions: We presented two pediatric cases with FXII deficiency caused by novel

Indexed as

childrenF12gene mutationhereditary coagulation factor XII deficiencynovel mutationprolonged APTT

Identifiers

PMID40673203
PMCPMC12263663

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