Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing - Yu, Bingqing; Gao, Yinjie; Mao, Jiangfeng; Wang, Xi; Nie, Min; Wu, Xueyan (Orphanet journal of rare diseases, 2021)
Keywords: Amino acid substitution; Amino acids; Clitoris; Differences of sex development; Disease; Disorder of Sex Development, 46,XY - genetics; Disorders of sex development; Gene deletion; Genes; Genotype & phenotype; Heterozygote; Hospitals; Humans; Medical research; Minigene; Mutation; Mutation, Missense; NR5A1; Nucleotides; Pathogenicity; Patients; Point mutation; Rare diseases; Reporter gene; Ribonucleic acid; RNA; RNA Splicing; Splice; Splicing; Steroidogenic Factor 1 - genetics; Transcription; NR5A1; Minigene; Splice; Disorders of sex development; Mutation