Evidence map›Paper›PMID 40980126›Full record

ArticleFrontiers in pediatrics2025

A novel variant leads to WT1-related nephrotic syndrome and differences of sex development: a case report.

Shan Gao, Dahai Wang, Xingmei Ding, Cui Bai, Nana Nie, Hong Chang, Ranran Zhang, Jia Liu, Qiuye Zhang, Lin Liu and 1 more

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

11 authors.

Shan GaoDepartment of Pediatric Nephrology, Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Dahai WangDepartment of Pediatric Nephrology, Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Xingmei DingDepartment of Pediatrics, Qingdao West Coast New Area District Hospital, Qingdao, China.
Cui BaiDepartment of Pediatric Nephrology, Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Nana NieDepartment of Pediatric Nephrology, Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Hong ChangDepartment of Pediatric Nephrology, Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Ranran ZhangDepartment of Pediatric Nephrology, Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Jia LiuDepartment of Pediatric Nephrology, Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Qiuye ZhangDepartment of Pediatric Nephrology, Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Lin LiuDepartment of Pediatric Nephrology, Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Yi LinDepartment of Pediatric Nephrology, Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Methods: The child, identified as female based on social gender, exhibited symptoms at 6 years of age and was diagnosed with steroid-resistant nephrotic syndrome (SRNS). Renal biopsy findings indicated focal segmental glomerulosclerosis. Whole-exome sequencing unveiled a novel variant, c.1447 + 6(IVS9)T > C, in the Results: The variant was classified as likely pathogenic (PS2 + PM2_Supporting + PP3) in accordance with American College of Medical Genetics and Genomics (ACMG) guidelines. Conclusion: Through high-throughput sequencing and

Indexed as

focal segmental glomerulosclerosisFrasier syndromeminigene experimentnephrotic syndromeWT1 gene

Identifiers

PMID40980126
PMCPMC12443816

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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.