Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
Clinical analysis of salt-wasting in infants due to genetic aetiology.
Xie Y et al.
Endokrynologia Polska, 2024
Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
Gurpinar Tosun B et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.
Miao H et al.
Steroids, 2019
[Four cases of aldosterone synthase deficiency in childhood].
Collinet E et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2012
A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene.
Taranta A et al.
Gene, 2012
A particular phenotype in a girl with aldosterone synthase deficiency.
Williams TA et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
A compound heterozygote case of type II aldosterone synthase deficiency.
Dunlop FM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Type 1 aldosterone synthase deficiency presenting in a middle-aged man.
Kayes-Wandover KM et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
Wasniewska M et al.
European Journal of Endocrinology, 2001
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M et al.
Hormone Research, 1999
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
Portrat-Doyen S et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies.
Peter M et al.
European Journal of Endocrinology, 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
Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.
Peter M et al.
The Journal of Clinical Endocrinology and Metabolism, 1997