Evidence map›Paper›PMID 34257719›Full record

ArticleExperimental and therapeutic medicine2021

First Chinese patient with mental retardation-40 due to a

Yan Dong, Xiaoyi Shi, Kaixian Du, Ruijuan Xu, Tianming Jia, Jun Wang, Lijun Wang, Rui Han

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Experimental and therapeutic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 29% 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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Molecular syndromology · 2026
    Article
  2. Genes · 2023
    Review
  3. Review
  4. Deficiency ofBrain communications · 2022
    Article
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

8 authors at 1 institution in 1 country.

Yan DongNeurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China.
Xiaoyi ShiDevelopment and Behavior Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China.
Kaixian DuNeurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China.
Ruijuan XuNeurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China.
Tianming JiaNeurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China.
Jun WangDepartment of Children's Rehabilitation, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China.
Lijun WangNeurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China.
Rui HanNeurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China.
Third Affiliated Hospital of Zhengzhou University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mental retardation-40 (MRD40) is a rare autosomal dominant neurodevelopmental disorder with a poor prognosis that is caused by a heterozygous mutation in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). It was previously considered a non-syndromic disease due to the lack of specific external features. Only limited international reports describing CHAMP1 mutations are currently available. The present case study was the first to report on a Chinese patient with MRD40. The patient presented with severe global development delay with significant craniofacial dysmorphia. Using trio whole-exome sequencing, a novel

Indexed as

chromosome alignment maintaining phosphoprotein 1global development delayintellectual disabilitywhole-exome sequencing

Identifiers

PMID34257719
PMCPMC8243316
OpenAlexW3174234669

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.