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Article

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.

The Journal of clinical endocrinology and metabolism - 1 Oct 2005

Grigorescu Sido Anca, Weber Matthias M, Grigorescu Sido Paula, Clausmeyer Susanne, Heinrich Udo, Schulze Egbert

Abstract excerpt

CONTEXT: Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene. OBJECTIVE: The study aimed to perform molecular characterization in 43 Romanian patients with classical CAH forms diagnosed at the Center for Genetic Diseases of the Pediatric Clinic/University Cluj (38 with 21-hydroxylase deficiency, five with 11beta-hydroxylase...

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Identifiers

PMID: 16046588
DOI: 10.1210/jc.2005-0379

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