Evidence map›Paper›PMID 37152320›Full record

ArticleFrontiers in pediatrics2023

De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature.

Yingxiao Shen, Xiaoqin Xu, Jiansong Chen, Jingjing Wang, Guanping Dong, Ke Huang, Junfen Fu, Dingwen Wu, Wei Wu

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2023. 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
0.6field-weighted citation impact, top 25% of its field
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, 2 citations in OpenAlex.

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

9 authors at 1 institution in 1 country.

Yingxiao ShenDepartment of Endocrinology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Xiaoqin XuDepartment of Endocrinology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Jiansong ChenDepartment of Orthopedics, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Jingjing WangDepartment of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Guanping DongDepartment of Endocrinology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Ke HuangDepartment of Endocrinology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Junfen FuDepartment of Endocrinology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Dingwen WuDepartment of Genetics and Metabolism, Genetics and Metabolism, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Wei WuDepartment of Endocrinology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Children's Hospital of Zhejiang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To explore the genetic etiology of a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations. Materials and methods: Whole exome sequencing (WES), Copy number variation sequencing (CNV-seq), and mitochondrial gene detection (Long-PCR + NGS) were applied to detect possible pathogenic mutations and chromosomal copy number variations (CNVs), together with databases and literature reviews to clarify the pathological significance of the candidate mutations. Results: The WES revealed a 2.10 Mb interstitial deletion from 11q13.3 to 11q13.4, which was later confirmed by CNV-seq involving 11 OMIM genes, among which SHANK2, DHCR7, NADSYN1, FADD, NUMA1, IL18BP, ANO1, and FGF3 are disease-causing. The mitochondrial gene shows no variations. Conclusion: The child has carried a

Indexed as

ANO1copy number variationdeletion 11q13developmental delayfanconi renotubular syndromemental retardationSHANK2

Identifiers

PMID37152320
PMCPMC10160663
OpenAlexW4366688697

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.