Evidence map›Paper›PMID 40726901›Full record

ArticleFrontiers in pediatrics2025

Case Report: A novel compound heterozygosity of the

Xiayuan Xu, Chengcheng Gao, Keqin Jin, Liping Zhang, Yanfen Yang, Jun Zhang, Yun Ye, Shuangshuang Shen

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Xiayuan Xu *Department of Genetic Laboratory, Jinhua Maternity and Child Health Care Hospital, Jinhua, China.
Chengcheng Gao *Key Laboratory of Digital Technology in Medical Diagnostics of Zhejiang Province, Dian Diagnostics Group Co., Ltd., Hangzhou, China.
Keqin JinDepartment of Genetic Laboratory, Jinhua Maternity and Child Health Care Hospital, Jinhua, China.
Liping ZhangDepartment of Ultrasonography, Jinhua Maternity and Child Health Care Hospital, Jinhua, China.
Yanfen YangDepartment of Ultrasonography, Jinhua Maternity and Child Health Care Hospital, Jinhua, China.
Jun ZhangDepartment of Genetic Laboratory, Jinhua Maternity and Child Health Care Hospital, Jinhua, China.
Yun YeJinhua's Key Laboratory of Birth Defects Prevention and Treatment, Jinhua Maternity and Child Health Care Hospital, Jinhua, China.
Shuangshuang ShenJinhua's Key Laboratory of Birth Defects Prevention and Treatment, Jinhua Maternity and Child Health Care Hospital, Jinhua, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Congenital heart defects (CHDs) represent the leading cause of neonatal mortality among congenital abnormalities. Genetic factors, such as Case presentation: Here, we describe a male fetus with complex CHD who was diagnosed at 25 weeks of gestation, delivered at full term, and died prematurely within a month due to heart failure. The cardiac abnormalities observed included an atrial septal defect developing from a patent foramen ovale, mitral valve regurgitation, dilated right ventricle and left atrium, aortic stenosis, and aortic arch dysplasia. Novel compound heterozygosity of the Conclusions: Our study expands the genotypic and phenotypic spectra of

Indexed as

case reportcongenital heart defectEllis–van Creveld syndromeEVC2fetusneonate

Identifiers

PMID40726901
PMCPMC12301331

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.