Associated Papers
Cracking the code of aldosterone synthase deficiency: bridging genetics and biochemistry: a case report.
Kamarajan LP et al.
Laboratory Medicine, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Clinical analysis of salt-wasting in infants due to genetic aetiology.
Xie Y et al.
Endokrynologia Polska, 2024
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
Merakou C et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.
Miao H et al.
Steroids, 2019
Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency.
Li N et al.
Molecular Medicine Reports, 2016
The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene.
Hui E et al.
Bmc Endocrine Disorders, 2014
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