Evidence map›Paper›PMID 41727761›Full record

ArticleFrontiers in pediatrics2026

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.

Yige Zhang, Xiaoyan Shi, Xiao Xiao, Shuhua Yuan, Jihong Tang

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PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2026. 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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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

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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

5 authors.

Yige ZhangDepartment of Neurology, Children's Hospital of Soochow University, Suzhou, China.
Xiaoyan ShiDepartment of Neurology, Children's Hospital of Soochow University, Suzhou, China.
Xiao XiaoDepartment of Neurology, Children's Hospital of Soochow University, Suzhou, China.
Shuhua YuanDepartment of Child Health Care, Linyi People's Hospital, Linyi, China.
Jihong TangDepartment of Neurology, Children's Hospital of Soochow University, Suzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: To characterize the clinical and genetic features of a female infant with X-linked intellectual disability syndrome type 34 (MRXS34) caused by a Methods: Retrospective study of the clinical data of a 10-month-old female infant diagnosed with MRXS34 due to NONO gene variation in June 2024, along with a literature review. Results: The proband presented with global developmental delay, relative macrocephaly, generalized hypotonia, cardiac anomalies (patent foramen ovale, moderate tricuspid regurgitation, pulmonary hypertension), etc. Whole-exome sequencing (WES) identified a Discussion: We report the first molecularly confirmed female MRXS34 patient. Her full phenotypic manifestation is attributed to the

Indexed as

female patientframeshift variantNONO geneX-chromosome inactivationX-linked intellectual disability syndrome type 34

Identifiers

PMID41727761
PMCPMC12916698

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