Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome
Sci Rep. 2025 Jul 1;15(1):20772. doi: 10.1038/s41598-025-07268-z. ABSTRACT Postzygotic mosaicism (PZM) has been increasingly recognized in Cornelia de Lange syndrome (CdLS). However, it has been …