Ling Zhang

A novel de novo multi-exon deletion of SYT1 in a child with Baker-Gordon syndrome

This study describes a 13-month-old Chinese boy who presented with global developmental delay, axial hypotonia, stereotypic hand-flapping movements, limited vocalization, and mild facial dysmorphism and identifies a novel de novo heterozygous deletion spanning exons 6-8 of SYT1, which was subsequently confirmed by quan...