Severe aldosterone synthase deficiency in a nine-day old Lebanese boy: the importance of functional studies to establish pathogenicity of seemingly benign variants in CYP11B2.
Article in Hormone Research in Paediatrics (February 2024)
The most recent citing publications are shown below. View all 20 publications that cite this research output on Dimensions.
Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports
Article in Cureus (May 2023)
Aldosterone synthase deficiency with CYP11B2 gene mutation:a case report and literature review
Article in Chinese Pediatric Emergency Medicine (January 2023)