Evidence map›Paper›PMID 37761893›Full record

ReviewGenes2023

Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.

Raffaella Brugnoni, Daria Marelli, Nicola Iacomino, Eleonora Canioni, Cristina Cappelletti, Lorenzo Maggi, Anna Ardissone

Open access · goldAbstract readCase ReportsReview
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
0.5field-weighted citation impact, top 34% 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, 3 citations in OpenAlex.

  1. Article
  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

7 authors at 2 institutions in 1 country.

Raffaella BrugnoniNeuroimmunology and Neuromuscular Diseases Unit, Department of Clinical Research and Development, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0003-1365-4508
Daria MarelliChild Neurology Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Nicola IacominoNeuroimmunology and Neuromuscular Diseases Unit, Department of Clinical Research and Development, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-1032-9120
Eleonora CanioniNeuroimmunology and Neuromuscular Diseases Unit, Department of Clinical Research and Development, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Cristina CappellettiNeuroimmunology and Neuromuscular Diseases Unit, Department of Clinical Research and Development, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Lorenzo MaggiNeuroimmunology and Neuromuscular Diseases Unit, Department of Clinical Research and Development, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-0932-5173
Anna ArdissoneChild Neurology Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0003-1969-0147
Fondazione IRCCS Istituto Neurologico Carlo Besta · ITUniversity of Milan · IT

Funding

Ministero della Salute RRC_2023
6 · The paper itself

Abstract

Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive musculoskeletal disorder caused by various mutations in the

Indexed as

MutationOsteochondrodysplasiasChildFemaleHumansMaleMoroccoPedigreeHSPG2 geneperlecanSchwartz–Jampel syndrome type 1

Identifiers

PMID37761893
PMCPMC10531088
OpenAlexW4386420441

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.