Evidence map›Paper›PMID 40800196›Full record

ArticleTranslational pediatrics2025

Hongjuan Tian, Dehua Wu, Hao Yang, Dingwen Wu, Chang Tao, Jia Wei, Jinna Yuan, Junfen Fu, Daxing Tang, Xiang Yan

Erratum issuedAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Erratum to:Translational pediatrics · 2026
    Article
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Hongjuan TianDepartment of Urology, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.
Dehua WuDepartment of Urology, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.
Hao YangDepartment of Urology, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.
Dingwen WuDepartment of Genetics & Metabolism, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.
Chang TaoDepartment of Urology, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.
Jia WeiDepartment of Urology, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.
Jinna YuanDepartment of Endocrinology, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.
Junfen FuDepartment of Endocrinology, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.
Daxing TangDepartment of Urology, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.
Xiang YanDepartment of Urology, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.ORCID https://orcid.org/0009-0001-6881-7020

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Loss-of-function variants in protein phosphatase 1 regulatory subunit 12A ( Case Description: Twin A exhibited more feminine external genitalia (Prader III), while Twin B showed severe hypospadias (Prader IV) along with left cryptorchidism and right hernia. Endocrine evaluation and ultrasonography revealed that Twin A had bilateral gonadal dysgenesis, confirmed by gonadal pathology, while Twin B had well-functioning testes. Both twins were identical with a 46,XY karyotype. Genetic sequencing identified a novel heterozygous Conclusions: This is the first instance of identical twins with a heterozygous mutation (c.1551-2A>G) in the

Indexed as

case reportDisorders of sex development (DSD)geneticshypospadiasurogenital and/or brain malformation syndrome (UBMS)

Identifiers

PMID40800196
PMCPMC12336875

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.