Associated Papers
Severe Aldosterone Synthase Deficiency in a 9-Day-Old Lebanese Boy: The Importance of Functional Studies to Establish Pathogenicity of Seemingly Benign Variants in CYP11B2.
Ghaddhab C et al.
Hormone Research in Paediatrics, 2025
Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic variant with coexisting celiac disease: A case study and literature review.
Gawlik Z et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2025
Congenital hyperreninemic hypoaldosteronism: A case report.
Yupanqui ME et al.
Sage Open Medical Case Reports, 2023
Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.
Karlekar MP et al.
Clinical Endocrinology, 2021
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
Merakou C et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.
Miao H et al.
Steroids, 2019
Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient - Case report and review of literature.
Lages AS et al.
Archives of Endocrinology and Metabolism, 2019
The impact of the clinical CYP11B2 mutation V386A strongly depends on the enzyme's genetic background.
Neunzig J et al.
Endocrine Journal, 2017
A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism.
Alfaraidi L et al.
Case Reports in Endocrinology, 2017
The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene.
Hui E et al.
Bmc Endocrine Disorders, 2014
Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.
Kondo E et al.
Endocrine Journal, 2013
Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.
Klomchan T et al.
European Journal of Pediatrics, 2012
Fission yeast Schizosaccharomyces pombe as a new system for the investigation of corticosterone methyloxidase deficiency-causing mutations.
Tin MK et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2011
Congenital adrenal hyperplasia owing to 11β-hydroxylase deficiency.
White PC
Advances in Experimental Medicine and Biology, 2011
[Primary hypoaldosteronism and moderate bilateral deafness in a child with a homozygous missense mutation (Thr318Met) in the CYP11B2 gene].
Rubio-Cabezas O et al.
Anales De Pediatria (barcelona, Spain : 2003), 2010
Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11beta-hydroxylase deficiency.
Cingöz S et al.
Journal of Endocrinological Investigation, 2007
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene.
Leshinsky-Silver E et al.
Hormone Research, 2006
Editorial: polymorphisms in CYP11B genes and 11-hydroxylase activity.
White PC et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Evidence for compromised aldosterone synthase enzyme activity in preeclampsia.
Shojaati K et al.
Kidney International, 2004
[11beta-hydroxylase deficiency].
Mello MP et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Aldosterone synthase deficiency and related disorders.
White PC
Molecular and Cellular Endocrinology, 2004
A compound heterozygote case of type II aldosterone synthase deficiency.
Dunlop FM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism.
Kuribayashi I et al.
Hormone Research, 2003
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M et al.
Hormone Research, 1999
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.
Peter M et al.
European Journal of Pediatrics, 1998
Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II.
Peter M et al.
Hormone Research, 1998
Aldosterone secretion: a molecular perspective.
Boon WC et al.
Trends in Endocrinology and Metabolism: Tem, 1997
Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency.
Fardella CE et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.
Zhang G et al.
American Journal of Human Genetics, 1995
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.
Curnow KM et al.
Proceedings of the National Academy of Sciences of the United States of America, 1993
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.
Cerame BI et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0