Evidence map›Paper›PMID 37712068›Full record

ArticleFrontiers in genetics2023

Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.

Tomomi Yamaguchi, Kazuo Yamada, So Nagai, Toshiya Nishikubo, Norimichi Koitabashi, Masako Minami-Hori, Masaaki Matsushima, Yuka Shibata, Hiroki Ishiguro, Hiromi Sanai and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024
    Article
  3. Genetic diagnosis of the Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024
    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

14 authors.

Tomomi YamaguchiCenter for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Kazuo YamadaDepartment of Biosignaling and Radioisotope Experiment, Interdisciplinary Center for Science Research, Head Office for Research and Academic Information, Shimane University, Izumo, Japan.
So NagaiCenter for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Toshiya NishikuboDivision of Neonatal Intensive Care, Nara Medical University, Nara, Japan.
Norimichi KoitabashiDepartment of Cardiovascular Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.
Masako Minami-HoriDivision of Dermatology, Asahikawa City Hospital, Asahikawa, Japan.
Masaaki MatsushimaDepartment of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Yuka ShibataDivision of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.
Hiroki IshiguroDepartment of Clinical Genetics, Graduate School of Medicine, University of Yamanashi, Chuo, Japan.
Hiromi SanaiDepartment of Obstetrics and Gynecology, Yamaguchi Prefectural Grand Medical Center, Yamaguchi, Japan.
Tomomi FujikawaDivision of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.
Yuri TakiguchiDivision of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.
Ken-Ichi MatsumotoDepartment of Biosignaling and Radioisotope Experiment, Interdisciplinary Center for Science Research, Head Office for Research and Academic Information, Shimane University, Izumo, Japan.
Tomoki KoshoCenter for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Classical-like Ehlers-Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in

Indexed as

classical-likeconnective tissue disorderEhlers-Danlos syndrometenascin-XTNXB

Identifiers

PMID37712068
PMCPMC10498456

What OpenQuestion holds

Textmetadata
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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.