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Article

Genotype, phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia.

Journal of endocrinological investigation - 1 Oct 2011

Einaudi S, Napolitano E, Restivo F, Motta G, Baldi M, Tuli G, Grosso E, Migone N, Menegatti E, Manieri C

Abstract excerpt

Non-classical congenital adrenal hyperplasia (NCAH) is a morbid condition sustained by the reduced function of one of the enzymes involved in the adrenal steroid biosynthesis pathway, mainly the 21-hydroxylase. Different degrees of enzyme activity impairment determine different clinical pictures, with childhood or post-pubertal onset. The aim of this study was to evaluate the relationship between genotype,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21169730
DOI: 10.3275/7410

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