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Article

Aldosterone synthase deficiency type I: hormonal and genetic analyses of two cases.

Hormone research - 1 Jan 1999

López-Siguero J P, García-García E, Peter M, Sippell W G

Abstract excerpt

Two female infants with clinical and biochemical findings of mineralocorticoid deficiency are presented. Both cases were diagnosed with aldosterone synthase type-I deficiency by multisteroid analysis. Two different mutations were located in the CYP11B2 gene: two homozygous amino acid substitutions (E188D and V386A) in case 1, and one heterozygous substitution (L324Q) and one heterozygous stop mutation (Y265X) in...

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Identifiers

PMID: 10965212
DOI: 10.1159/000023500

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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