Article
Lack of correlation between phenotype and genotype in untreated 21-hydroxylase-deficient Indonesian patients.
Clinical endocrinology - 1 Nov 2009
Goossens Kristel, Juniarto Achmad Z, Timmerman Marianna A, Faradz Sultana M H, Wolffenbuttel Katja P, Drop Stenvert L S, de Jong Frank H
Abstract excerpt
BACKGROUND: Mutations in CYP21A2 lead to deficiency of 21-hydroxylase and can have either severe or moderate effects on phenotype, which can be prevented by early treatment. We studied long-term effects of this deficiency on phenotype in patients who had not been treated for prolonged periods and correlated these phenotypes with the mutations found in our patients. OBJECTIVE: To assess the correlation between...
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