Associated Papers
Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Porzio O et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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
An overview of molecular diagnosis of steroid 21-hydroxylase deficiency.
Keegan CE et al.
The Journal of Molecular Diagnostics : Jmd, 2001
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.
Balsamo A et al.
Clinical Endocrinology, 2000
Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Bachega TA et al.
Clinical Endocrinology, 2000
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