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Women's Health Weekly

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Congenital Adrenal Hyperplasia



CYP21 polymorphisms are plausible disease-causing mutations in CAH patients



September 8th, 2005

Steroid 21-hydroxylase (CYP21) polymorphisms are plausible disease-causing mutations in congenital adrenal hyperplasia patients with a mild form of the disease.

In a recent article published in the European Journal Of Endocrinology, scientists in Slovenia conducted a study "To analyze the mutational spectrum of CYP21 and the genotype-phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for Pediatric Endocrinology CAH database, and to design a reliable and rational approach for CYP21 mutation detection in Middle European populations."

V. Dolzan and associates at the University of...


Source: Women's Health Weekly (2005-09-08)

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