Associated Papers
An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.
Hannah-Shmouni F et al.
Reviews in Endocrine & Metabolic Disorders, 2018
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
Carmina E et al.
Human Reproduction Update, 2017
Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.
Ghizzoni L et al.
European Journal of Endocrinology, 2011
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
Dolzan V et al.
European Journal of Endocrinology, 2005
The prevalence, molecular analysis and HLA typing of late-onset 21-hydroxylase deficiency in Turkish woman with hirsutism and polycystic ovary.
Yarman S et al.
Endocrine Journal, 2004
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
Dolzan V et al.
European Journal of Endocrinology, 2003
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
Billerbeck AE et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia.
Dracopoulou-Vabouli M et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
Witchel SF et al.
Human Genetics, 2000
Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.
Tajima T et al.
Endocrine Journal, 1998
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
Nikoshkov A et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
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