Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

Phyllis Speiser, Wiebke Arlt, Richard J. Auchus et al. · The Journal of Clinical Endocrinology & Metabolism · 2018 · 1.2K citations · Full text

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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

Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Maria I. New, Moolamannil Abraham, Brian D. Gonzalez et al. · Proceedings of the National Academy of Sciences · 2013 · 361 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.

Perrin C. White, A Vitek, Bo Dupont et al. · Proceedings of the National Academy of Sciences · 1988 · 233 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Modular Variations of the Human Major Histocompatibility Complex Class III Genes for Serine/Threonine Kinase RP, Complement Component C4, Steroid 21-Hydroxylase CYP21, and Tenascin TNX (the RCCX Module)

Zhenyu Yang, Anna R. Mendoza, Thomas R. Welch et al. · Journal of Biological Chemistry · 1999 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15