Article
Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by CYP11B gene mutation.
Yi chuan = Hereditas - 20 Dec 2022
Song Qing-Qing, Zhang Su-Su, Zhang Zhen, Sun Jia, Yang Rui, Li Ji-Tong, Chen Hong
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an autosomal recessive hereditary disease, and the 11β- hydroxylase deficiency is the second most common syndrome in different types of CAH. The occurrence of 11β- hydroxylase deficiency is related to the mutation of CYP11B gene on human autosome 8. In this report, we detected the gene mutation sites of a 14-year-old patient with 11β-hydroxylase deficiency by whole exon...
Topics
- Humans
- Adolescent
- Steroid 11-beta-Hydroxylase
- Mutation
- Adrenal Hyperplasia, Congenital
- Mutation, Missense
- Exons