21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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

Phyllis Speiser, Ricardo Azziz, Laurence S. Baskin et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 1.5K citations · Full text

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Congenital adrenal hyperplasia

Deborah P. Merke, Stefan R. Bornstein · The Lancet · 2005 · 584 citations

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

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Congenital Adrenal Hyperplasia

Jeremy Levy, Douglas A. Husmann · The Journal of Urology · 1996 · 416 citations