The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of theCYP21A2gene

Author:

Livadas S.1,Dracopoulou M.1,Dastamani A.1,Sertedaki A.1,Maniati-Christidi M.1,Magiakou A.-M.1,Kanaka-Gantenbein C.1,Chrousos G.P.1,Dacou-Voutetakis C.1

Affiliation:

1. First Department of Pediatrics; Division of Endocrinology; Diabetes and Metabolism; School of Medicine; “Aghia Sophia” Children's Hospital; National and Kapodistrian University of Athens; Athens Greece

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference40 articles.

1. http://www.hgmd.cf.ac.uk

2. http://www.cypalleles.ki.se/cyp21

3. Congenital Adrenal Hyperplasia;Witchel;Journal of Pediatric and Adolescent Gynecology,2011

4. The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia;Dracopoulou-Vabouli;Journal of Clinical Endocrinology and Metabolism,2001

5. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study;Gidlo¨f;The Lancet Diabetes & Endocrinology,2013

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