Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
Rondeau S,Huber C,Kerkhof J,Sadikovic B,Cormier-Daire V
Source :
Springer Science and Business Media LLC
2026 Oct 19
Pmid / DOI:
10.1038/s41431-026-02259-8