Evidence map›Paper›PMID 41054832›Full record

ArticleClinical genetics2025

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.

Iacopo Bellani, Valentina Trevisan, Germana Viscogliosi, Maria Grazia Pomponi, Pietro Chiurazzi, Alessandro Mussa, Giuseppe Zampino, Maurizio Genuardi, Chiara Leoni

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PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 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

9 authors.

Iacopo BellaniSchool of Paediatrics, University of Milano-Bicocca, Milan, Italy.
Valentina TrevisanCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Germana ViscogliosiCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.ORCID 0000-0002-1697-6337
Maria Grazia PomponiMedical Genetics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pietro ChiurazziMedical Genetics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Alessandro MussaPediatric Clinical Genetics Unit, Regina Margherita Children's Hospital, Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.ORCID 0000-0003-2795-6013
Giuseppe ZampinoCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Maurizio GenuardiMedical Genetics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Chiara LeoniCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.ORCID 0000-0002-4089-637X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Accurately diagnosing Beckwith-Wiedemann syndrome (BWS) in twins with discordant phenotypes is essential for personalized oncological monitoring and management. It is advisable to test both twins, even without phenotypic expression, and incorporate prenatal factors like assisted reproduction technologies and twin pregnancies into the diagnostic BWS scoring system.

Indexed as

Beckwith-Wiedemann SyndromeFemaleHumansMalePhenotypePregnancyTwinsBeckwith–WiedemannBeckwith–Wiedemann spectrumBWS phenotypeBWS surveillancediscordant twin phenotypeIC2 hypomethylationimprintingmosaicismtwinning

Identifiers

PMID41054832
PMCPMC12501699

What Socratic holds

Textmetadata
LicenceCC BY-NC
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.