Evidence map›Paper›PMID 42792905›Full record

ReviewGenes2026

Three Novel de Novo

Haixia Miao, Ting Zhang, Kexin Fang, Shuai Chen, Xiaocha Xu, Yi Zhang, Xinwen Huang

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

Review in Genes, 2026. 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

7 authors.

Haixia MiaoDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Ting ZhangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Kexin FangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Shuai ChenDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Xiaocha XuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Yi ZhangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Xinwen HuangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.

Funding

Science and Technology Department of Zhejiang Province 2024C03152
6 · The paper itself

Abstract

backgroundVariants in

methodsClinical data from three patients were collected, including clinical features, growth and developmental profiles, neuropsychological assessments, and urogenital evaluations. Whole-exome sequencing (WES) was performed to screen for candidate variants, and variant pathogenicity was interpreted following the American College of Medical Genetics and Genomics (ACMG) guidelines.

resultsAll three patients carried previously unreported de novo truncating variants in

conclusionsWe report three previously unreported de novo truncating variants in

Indexed as

Developmental DisabilitiesIntellectual DisabilitySOXC Transcription FactorsExome SequencingFemaleHumansInfantMaleMutationPhenotypeSOX4 protein, humanSOXC Transcription Factorshypospadiasnystagmuswhole-exome sequencing

Identifiers

PMID42792905
PMCPMC13606177

What OpenQuestion holds

Textmetadata
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.