Case report
Open access
Jan 2026
First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion
Background Cornelia de Lange syndrome (CdLS) currently has seven known causative genes, inherited in an autosomal or X‐linked dominant pattern. Clinical features are variable, including dysmorphic facial features, intrauterine and/or postnatal growth retardation, multiple organ system malformations, and neurodevelopmen...
Yan-Chuan Xie, Dong-Yan Li, Wen-Sheng Li et al.
· Human Mutation · 0 citations