A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay.
Xuechao ZhaoYuting ZhengLi WangYanhong WangShiyue MeiXiangdong KongPublished in: Molecular genetics & genomic medicine (2022)
We identified a novel variant (c.2029G>C) in the UBE3A in a Chinese family with multigenerational intellectual disability and developmental delay. Our findings expanded the genotypic spectrum of AS and provided important information for genetic counseling.