Evidence map›Paper›PMID 39538191›Full record

ReviewBMC pediatrics2024

Report of one case with de novo mutation in TLK2 and literature review.

Han-Yue Li, Chun-Ming Jiang, Ruo-Yan Liu, Chao-Chun Zou

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

Review in BMC pediatrics, 2024. 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

4 authors.

Han-Yue LiDepartment of Pediatrics, Affiliated Hangzhou First People's Hospital, School of Medicine, Westlake University, Hangzhou, China.
Chun-Ming JiangDepartment of Pediatrics, Affiliated Hangzhou First People's Hospital, School of Medicine, Westlake University, Hangzhou, China.
Ruo-Yan LiuDepartment of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333, Binsheng Road, Hangzhou, 310052, China.
Chao-Chun ZouDepartment of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333, Binsheng Road, Hangzhou, 310052, China. zcc14@zju.edu.cn.

Funding

Key R & D Projects of Zhejiang Provincial Science and Technology Agency 2021C03094
6 · The paper itself

Abstract

TLK2 variants were identified as the cause for several neurodevelopmental disorders by impacting brain development. The incidence of mutation in TLK2 is low, which has common clinical features with other rare diseases. Herein, we reported a 5-year-old boy with TLK2 heterozygous mutation who presented distinctive facial features, gastrointestinal diseases, short stature, language delay, autism spectrum disorder, heart diseases, abnormal genitourinary system and skeletal abnormality. Moreover, we reviewed previous reported patients and our case in order to investigate more information on genotype-phenotype correlation and identify significant clinical characteristics for better diagnosis.

Indexed as

MutationAutism Spectrum DisorderChild, PreschoolGastrointestinal DiseasesHeterozygoteHumansLanguage Development DisordersMaleAutism spectrum disorderLanguage delayTLK2 mutation

Identifiers

PMID39538191
PMCPMC11559194

What OpenQuestion holds

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Registered trials

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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.