Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.
Cheng LeiTing GuoShuizi DingLiyan LiaoHong PengZhiping TanHong LuoPublished in: Molecular genetics & genomic medicine (2020)
Our results revealed the clinical characteristics of the first Chinese patient with Traboulsi syndrome. Additionally, our study expands the mutational spectrum of Traboulsi syndrome and provides information for clinical genetic counseling to this family.