Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia

Author:

Guarnotta Valentina,Niceta Marcello,Bono Marianna,Marchese Serena,Fabiano Carmelo,Indelicato Serena,Di Gaudio Francesca,Garofalo Piernicola,Giordano Carla

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Endocrinology,Molecular Biology,Molecular Medicine,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia;Parsa;J. Steroid Biochem. Mol. Biol.,2017

2. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency;White;Endocr. Rev.,2000

3. Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population;Jääskeläinen;J. Clin. Endocrinol. Metab.,1997

4. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany;Krone;J. Clin. Endocrinol. Metab.,2000

5. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands: six novel mutations and a specific cluster of four mutations;Stikkelbroeck;J. Clin. Endocrinol. Metab.,2003

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