Associated Papers
Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients.
Riedl S et al.
Endocrine Connections, 2019
Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia.
Brønstad I et al.
Endocrine Connections, 2014
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
Barbaro M et al.
Journal of Molecular Medicine (berlin, Germany), 2006
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
Giwercman YL et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
Delague V et al.
Hormone Research, 2000
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