Case report
Open access
Aug 2026
Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient.
The proband, despite carrying a truncating variant, presented without classic digital anomalies or ocular involvement, underscoring that even loss-of-function alleles can produce atypical CSS4 phenotypes.
Xiuling Chen, J. Dumbuya, Jing Qi
· Frontiers in Genetics · 0 citations