Evidence map›Paper›PMID 31614862›Full record

ArticleGenes2019

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-

Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, Marzia Pollazzon, Sara Giangiobbe, Maurizia Valli, Antonio Rossi, Silvia Sassi, Silvia Faccioli, Maja Di Rocco and 5 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
2.7field-weighted citation impact, top 10% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. MutantFrontiers in genetics · 2022
    Article
  8. Article
  9. Article
  10. Article
  11. Frontiers in cell and developmental biology · 2020
    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

15 authors at 6 institutions in 2 countries.

Stefano Giuseppe CaraffiMedical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. stefanogiuseppe.caraffi@ausl.re.it.
Ilenia MainiMedical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. imaini@ausl.pr.it.
Ivan IvanovskiMedical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. ivan.ivanovski@ausl.re.it.
Marzia PollazzonMedical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. marzia.pollazzon@ausl.re.it.
Sara GiangiobbeMedical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. sara.giangiobbe@ausl.re.it.
Maurizia ValliDepartment of Molecular Medicine, Unit of Biochemistry, University of Pavia, 27100 Pavia, Italy. zuffardi@unipv.it.
Antonio RossiDepartment of Molecular Medicine, Unit of Biochemistry, University of Pavia, 27100 Pavia, Italy. antonio.rossi@unipv.it.
Silvia SassiRehabilitation Pediatric Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, 42122 Reggio Emilia, Italy. silvia.sassi@ausl.re.it.
Silvia FaccioliRehabilitation Pediatric Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, 42122 Reggio Emilia, Italy. silvia.faccioli@ausl.re.it.
Maja Di RoccoDepartment of Pediatrics, Unit of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy. majadirocco@gaslini.org.
Cinzia MagnaniNeonatology and Neonatal Intensive Care Unit, Maternal and Child Department, University of Parma, 43121 Parma, Italy. cinzia.magnani@unipr.it.
Belinda Campos-XavierDivision of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, 1011 Lausanne, Switzerland. belinda.xavier@chuv.ch.
Sheila UngerDivision of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, 1011 Lausanne, Switzerland. sheila.unger@chuv.ch.
Andrea Superti-FurgaDivision of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, 1011 Lausanne, Switzerland. asuperti@unil.ch.
Livia GaravelliMedical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. livia.garavelli@ausl.re.it.
Azienda Sanitaria Unità Locale di Reggio Emilia · ITUniversity Hospital of Lausanne · CHUniversity of Pavia · ITIstituto Giannina Gaslini · ITUniversity of Modena and Reggio Emilia · ITUniversity of Parma · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as "linkeropathies". The two phenotypes related to mutations in genes

Indexed as

Cells, CulturedChildChild, PreschoolEhlers-Danlos SyndromeGalactosyltransferasesHumansJoint InstabilityMaleMuscle HypotoniaMutationOsteochondrodysplasiasPhenotypeB3GALT6 protein, humanGalactosyltransferasesxylosylprotein 4-beta-galactosyltransferasebeta-1,3-galactosyltransferase 6 (B3GALT6)beta-1,4-galactosyltransferase 7 (B4GALT7)doughy skin on the hands and feetEhlers–Danlos syndrome (EDS)extreme laxity of distal jointsSEMDJL-Beighton type)softspEDS-B3GALT6spEDS-B4GALT7spondylodysplastic Ehlers–Danlos syndrome (spEDS)spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1

Identifiers

PMID31614862
PMCPMC6826576
OpenAlexW2979909542

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.