Associated Papers
Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.
Miao H et al.
Steroids, 2019
Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.
Kondo E et al.
Endocrine Journal, 2013
A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.
Løvås K et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).
Krone N et al.
Hormone Research, 2009
Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 gene.
Nguyen HH et al.
Molecular Genetics and Metabolism, 2008
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