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Article

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.

Clinical genetics - 1 Nov 2025

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

Abstract excerpt

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.

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PMID: 41054832
DOI: 10.1111/cge.70022
PMCID: PMC12501699

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