Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Miller
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WL
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011153:Population; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D013255:Steroid 21-Hydroxylase