In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Phyllis Speiser, Jakob Dupont, Dongjian Zhu et al. · Journal of Clinical Investigation · 1992 · 583 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Structure of human steroid 21-hydroxylase genes.

Perrin C. White, Maria I. New, Bo Dupont · Proceedings of the National Academy of Sciences · 1986 · 578 citations · Full text

Life Sciences, Biochemistry, Genetics +16

Predicting Phenotype in Steroid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well Defined Patients from Southern Germany

Nils Krone, Andreas Braun, Adelbert A. Roscher et al. · The Journal of Clinical Endocrinology & Metabolism · 2000 · 392 citations

Life Sciences, Endocrinology, Genetics +17

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.

Anna Wedell, Astrid Thilén, E. Martin Ritzén et al. · The Journal of Clinical Endocrinology & Metabolism · 1994 · 355 citations

Life Sciences, Genetics, Molecular Genetics +17

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

Nike Stikkelbroeck, Lies H. Hoefsloot, Ilse J. de Wijs et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 171 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17