Evidence map›Paper›PMID 38254920›Full record

ReviewGenes2023

Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.

Bożena Anna Marszałek-Kruk, Andrzej Myśliwiec, Anna Lipowicz, Wojciech Wolański, Małgorzata Kulesa-Mrowiecka, Krzysztof Dowgierd

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

Review in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.3field-weighted citation impact, top 16% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. 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

6 authors at 4 institutions in 1 country.

Bożena Anna Marszałek-KrukDepartment of Genetics, Wroclaw University of Environmental and Life Sciences, 51-631 Wroclaw, Poland.ORCID 0000-0002-2635-1074
Andrzej MyśliwiecLaboratory of Physiotherapy and Physioprevention, Institute of Physiotherapy and Health Sciences, Academy of Physical Education in Katowice, 40-065 Katowice, Poland.ORCID 0000-0003-2183-1156
Anna LipowiczDepartment of Anthropology, Faculty of Biology and Animal Science, Wroclaw University of Environmental and Life Sciences, 50-375 Wroclaw, Poland.ORCID 0000-0002-9182-6953
Wojciech WolańskiDepartment of Biomechatronics, Faculty of Biomedical Engineering, Silesian University of Technology, 41-800 Zabrze, Poland.ORCID 0000-0003-4553-3479
Małgorzata Kulesa-MrowieckaDepartment of Rehabilitation in Internal Diseases, Faculty of Health Sciences, Jagiellonian University Medical College, 31-126 Krakow, Poland.
Krzysztof DowgierdHead and Neck Surgery Clinic for Children and Young Adults, Department of Clinical Pediatrics, Collegium Medicum, University of Warmia and Mazury, 10-561 Olsztyn, Poland.ORCID 0000-0002-7605-2080
Wrocław University of Environmental and Life Sciences · PLJagiellonian University · PLSilesian University of Technology · PLUniversity of Warmia and Mazury in Olsztyn · PL

Funding

Wroclaw University of Environmental and Life Sciences Pomost grant nr N110/0003/21
6 · The paper itself

Abstract

Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and ankylosis of the temporomandibular joint. The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity. The majority of the described causes of Nager syndrome include pathogenic variants in the

Indexed as

Cleft PalateMandibulofacial DysostosisMicrognathismAdultChildHumansRNA Splicing FactorsSyndromeYoung AdultRNA Splicing FactorsSF3B4 protein, humanacrofacial dysostosesclinical treatmentNager syndromeSF3B4 gene

Identifiers

PMID38254920
PMCPMC10815867
OpenAlexW4390174739

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.