Skip to search formSkip to main contentSkip to account menu

Aldosterone Synthase Deficiency

An autosomal recessive condition due to mutation(s) in the CYP11B2 gene that results in decreased activity of mitochondrial cytochrome P450 11B2 with… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Three Chinese Patients from Two Kindreds with Aldosterone Synthase Deficiency: Clinical Characteristic with Mutation Analysis Report
Aldosterone Synthase deficiency (ASD) is a rare autosomal recessive disease caused by inactivating mutation in the CYP11B2 gene… 
2008
2008
Molecular genetic investigations of patients with defects in steroid hormone production
Das Gesamtziel dieser Arbeit bestand in der Erforschung des Genotyps sowohl von Patienten, die an Aldosteronsynthasedefizienz…