21-Hydroxylase deficiency: Mutational spectrum and Genotype–Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification

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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The Human Genome Browser at UCSC

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

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LOVD v.2.0: the next generation in gene variant databases

Ivo F.A.C. Fokkema, Peter E.M. Taschner, Gerard C. P. Schaafsma et al. · Human Mutation · 2011 · 1.1K citations · Full text

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