Evidence map›Paper›PMID 34682174›Full record

ArticleChildren (Basel, Switzerland)2021

Expanding the Phenotypic Spectrum of

Akshata Huddar, Kiran Polavarapu, Veeramani Preethish-Kumar, Mainak Bardhan, Gopikrishnan Unnikrishnan, Saraswati Nashi, Seena Vengalil, Priyanka Priyadarshini, Karthik Kulanthaivelu, Gautham Arunachal and 2 more

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

Article in Children (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 24% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. A novel compound heterozygous variant ofFrontiers in neurology · 2024
    Article
  4. Review
  5. 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

12 authors at 2 institutions in 2 countries.

Akshata HuddarDepartment of Neurology, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.
Kiran PolavarapuChildren's Hospital of Eastern Ontario Research Institute, Department of Medicine, Division of Neurology, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Veeramani Preethish-KumarDepartment of Neurology, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.ORCID 0000-0003-1158-0971
Mainak BardhanDepartment of Neurology, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.ORCID 0000-0002-4106-409X
Gopikrishnan UnnikrishnanDepartment of Neurology, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.
Saraswati NashiDepartment of Neurology, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.
Seena VengalilDepartment of Neurology, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.
Priyanka PriyadarshiniDepartment of Neuro Imaging and Interventional Radiology, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.
Karthik KulanthaiveluDepartment of Neuro Imaging and Interventional Radiology, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.ORCID 0000-0002-1585-8769
Gautham ArunachalDepartment of Human Genetics, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.ORCID 0000-0001-9985-7028
Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute, Department of Medicine, Division of Neurology, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Atchayaram NaliniDepartment of Neurology, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.
National Institute of Mental Health and Neurosciences · INUniversity of Ottawa · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, is caused by mutations in

Indexed as

AMCcontracturesdistal arthrogryposisECEL1muscle MRI

Identifiers

PMID34682174
PMCPMC8534696
OpenAlexW3205442131

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.