Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families

摘要

BackgroundGenodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study. Methods Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families.