Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia
刊名:The Journal of Steroid Biochemistry and Molecular Biology
出版年:2017
出版时间:January 2017
年:2017
卷:165
期:part_PA
页码:51-56
全文大小:439 K
卷排序:165
文摘
Genotype-phenotype correlation in patients with congenital adrenal hyperplasia due to 21-hydroxylased deficiency (21-OHD CAH) is variable. Genotype-phenotype discordance is observed in HLA identical siblings with 21-OHD CAH. Genotyping of family members of 21-OHD CAH patients is important in order to avoid pitfalls in genetic counseling. High frequency of the p.R357W mutation of CYP21A2 gene is found among Croatian 21-OHD CAH patients.