Clin Genet. 2025 Nov;108(5):609-611. doi: 10.1111/cge.70022. Epub 2025 Jul 18.
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.
PMID:41054832 | DOI:10.1111/cge.70022
