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Article

Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia.

Clinical biochemistry - 1 Aug 2011

Skordis Nicos, Shammas Christos, Efstathiou Elisavet, Kaffe Katerina, Neocleous Vassos, Phylactou Leonidas A

Abstract excerpt

OBJECTIVES: The aim of this study was to identify the molecular defect in a group of 37 unrelated Greek Cypriot patients affected by NC-CAH and evaluate the relationship between the genotype, phenotype and adrenal androgen levels. DESIGN AND METHODS: Clinical evaluation, biochemical analysis of 17-OHP, Testosterone, Androstenedione, DHEA-S, direct DNA sequencing and MLPA analyses. RESULTS: Eleven known mutations...

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Identifiers

PMID: 21635882
DOI: 10.1016/j.clinbiochem.2011.05.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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