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No clinical trials have been registered for Beckwith-Wiedemann syndrome due to NSD1 mutation.
4 publications have been identified in PubMed for Beckwith-Wiedemann syndrome due to NSD1 mutation. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).
Atterton C (2025). [PMID: 40353642](https://pubmed.ncbi.nlm.nih.gov/40353642/). *Dis Model Mech*. [Review / Meta-Analysis]
Schurink B (2025). [PMID: 39847050](https://pubmed.ncbi.nlm.nih.gov/39847050/). *Virchows Arch*. [Review / Meta-Analysis]
Cavarzere P (2025). [PMID: 41024235](https://pubmed.ncbi.nlm.nih.gov/41024235/). *Ital J Pediatr*. [Case Report / Case Series]
Kim GJ (2025). [PMID: 40577202](https://pubmed.ncbi.nlm.nih.gov/40577202/). *Endocr Connect*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:25 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Beckwith-Wiedemann syndrome due to NSD1 mutation