Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia

Publication date: Available online 27 March 2021Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Chenmin Wei, Zichen Zhang, Miaomiao Sang, Hao Dai, Tao Yang, Min Sun
Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research