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- Title
Aldosterone synthase deficiency type I: hormonal and genetic analyses of two cases.
- Authors
López-Siguero, J P; García-García, E; Peter, M; Sippell, W G
- Abstract
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 case 2.
- Publication
Hormone research, 1999, Vol 52, Issue 6, p298
- ISSN
0301-0163
- Publication type
Journal Article
- DOI
10.1159/000023500