Evidence map›Paper›PMID 40806714›Full record

ArticleInternational journal of molecular sciences2025

Francesco Calì, Miriam Virgillito, Simone Treccarichi, Antonino Musumeci, Pinella Failla, Carla Papa, Rosanna Galati Rando, Concetta Federico, Salvatore Saccone, Mirella Vinci

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2025. 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. Review
  2. Review
  3. Review
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

10 authors.

Francesco CalìOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-8667-8223
Miriam VirgillitoDepartment Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.ORCID 0009-0007-6465-2998
Simone TreccarichiOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-5631-9991
Antonino MusumeciOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-8999-3365
Pinella FaillaOasi Research Institute-IRCCS, 94018 Troina, Italy.
Carla PapaOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-4537-612X
Rosanna Galati RandoOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-3759-9841
Concetta FedericoDepartment Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.
Salvatore SacconeDepartment Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.ORCID 0000-0001-7568-5823
Mirella VinciOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0003-3026-8510

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Zinc finger proteins are frequently implicated in a wide range of neurodevelopmental disorders (NDDs). In this study, we report a case of mild intellectual disability (ID), global developmental delay (GDD), and developmental coordination disorder (DCD) in an individual with unaffected parents. Trio-based whole-exome sequencing (WES) identified a de novo variant (c.1530dup, p.Glu511ArgfsTer16) in the

Indexed as

Frameshift MutationGenetic Predisposition to DiseaseNeurodevelopmental DisordersChildDevelopmental DisabilitiesExome SequencingFemaleHumansIntellectual DisabilityPedigreeC2H2 zinc finger domainJARID2KRAB domainneurodevelopmental disorderszinc finger proteinsZNF496

Identifiers

PMID40806714
PMCPMC12347329

What Socratic 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 Socratic graph.