Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation - Huang, Yazhou; Ma, Linya; Zhang, Zhaoxia; Nie, Shujuan; Zhou, Yuan; Zhang, Jibo; Wang, Chao; Fang, Xingxin; Quan, Yingting; He, Ting; Liu, Anhui; Peng, Dan (Molecular genetics & genomic medicine, 2023)
Keywords: Abnormalities; Androgens; Asymptomatic; Calcium-Binding Proteins - genetics; Cataract - genetics; Cataracts; Chromosomes; Congenital diseases; Copy number; copy number variation sequencing; Deactivation; dense congenital cataracts; Disease; DNA Copy Number Variations; DNA methylation; Female; Females; Frameshift mutation; Gene expression; genetic counseling; Genetic screening; Genomes; Genomics; Haploinsufficiency; Hereditary diseases; Humans; Inactivation; Intellectual disabilities; Males; Membrane Proteins - genetics; Mutation; Nance–Horan syndrome; Nuclear Proteins - genetics; Original; Patients; Pedigree; Proteins; Sequences; X Chromosome Inactivation; X chromosomes; genetic counseling; Nance-Horan syndrome; copy number variation sequencing; dense congenital cataracts; X chromosome inactivation