Evidence map›Paper›PMID 40565534›Full record

ReviewGenes2025

Investigating the Role of

Gianluca Campobasso, Ludovica Mercuri, Francesca De Razza, Antonella Cosentino, Marta Mele, Antonella Monittola, Carmen Congedo, Maria Chiara Calò, Caterina Scalcione, Alessandro D'Amuri and 2 more

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

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

12 authors.

Gianluca CampobassoFetal Medicine Service, Department of Obstetrics and Gynecology, Vito Fazzi Hospital, 73100 Lecce, Italy.
Ludovica MercuriDepartment of Experimental Medicine, University of Salento, 73100 Lecce, Italy.
Francesca De RazzaMedical Genetics Unit, Presidio Ospedaliero "Vito Fazzi", 73100 Lecce, Italy.
Antonella CosentinoDepartment of Obstetrics and Gynecology, University of Bari, 70121 Bari, Italy.
Marta MeleDepartment of Obstetrics and Gynecology, University of Bari, 70121 Bari, Italy.
Antonella MonittolaDepartment of Obstetrics and Gynecology, University of Bari, 70121 Bari, Italy.
Carmen CongedoMedical Genetics Unit, Presidio Ospedaliero "Vito Fazzi", 73100 Lecce, Italy.
Maria Chiara CalòMedical Genetics Unit, Presidio Ospedaliero "Vito Fazzi", 73100 Lecce, Italy.
Caterina ScalcioneMedical Genetics Unit, Presidio Ospedaliero "Vito Fazzi", 73100 Lecce, Italy.
Alessandro D'AmuriDepartment of Experimental Medicine, University of Salento, 73100 Lecce, Italy.
Salvatore MauroMedical Genetics Unit, Presidio Ospedaliero "Vito Fazzi", 73100 Lecce, Italy.
Serena LattanteDepartment of Experimental Medicine, University of Salento, 73100 Lecce, Italy.ORCID 0000-0003-2891-0340

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Meckel-Gruber syndrome (MKS) is a rare autosomal recessive lethal ciliopathy, characterized by occipital encephalocele, cystic kidneys, and postaxial polydactyly, caused by mutations in different genes. Its significant genetic heterogeneity along with its clinical overlap with other ciliopathies makes early diagnosis essential for clinical management, accurate genetic counseling, and informing future reproductive decisions.

objectivesThis study aims to describe a prenatally diagnosed case carrying a homozygous

methodsWe comprehensively review the current literature on pathogenic

resultsOccipital encephalocele and polycystic kidneys were revealed via ultrasound, thus suggesting MKS. Genetic testing identified the homozygous c.151T>C (p.Ser51Pro) variant in the

conclusionsThis case supports the pathogenicity of the homozygous

Indexed as

Ciliary Motility DisordersEncephalocelePolycystic Kidney DiseasesRetinitis PigmentosaAdultFemaleGenetic TestingHomozygoteHumansMaleMutationPregnancyPrenatal DiagnosisB9D1ciliopathyencephaloceleMeckel–Gruber syndromeMKS

Identifiers

PMID40565534
PMCPMC12192128

What OpenQuestion holds

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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.