Associated Papers
Pathogenicity of Congenital Adrenal Hyperplasia Induced by the p.P377L Mutation of CYP11B1.
Ma G et al.
Biochemical Genetics, 2024
Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
Tang S et al.
Endocrine, 2024
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.
Wei C et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2021
Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency.
Zhou Q et al.
Frontiers in Pediatrics, 2020
Select a paper to view details