Molecular Defects of the <i>CYP21A2</i> Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia

Abstract

The spectrum of mutations of the CYP21A2 gene in our population is comparable to the most common reported in similar ethnic groups. The knowledge of the ethnic specificity of the CYP21A2 mutations represents a valuable diagnostic tool for all forms of CAH.