Associated Papers
A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.
Janot C et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL et al.
World Journal of Pediatrics : Wjp, 2024
Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
Liu H et al.
Endocrine, 2024
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.
Wang X et al.
Steroids, 2015
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