The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes
当致病性 p.Gln319Ter 变异遗传至重复的 CYP21A2 基因之一时,不会引起先天性肾上腺皮质增生症。
期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2023.1156616
Fanis, Pavlos; Skordis, Nicos; Toumba, Meropi; Picolos, Michalis; Tanteles, George A; Neocleous, Vassos; Phylactou, Leonidas A