Aromatase Excess Syndrome: Identification of Cryptic Duplications and Deletions Leading to Gain of Function of<i>CYP19A1</i>and Assessment of Phenotypic Determinants

Abstract

This study provides novel mechanisms leading to gain of function of CYP19A1. Furthermore, it appears that clinical severity of AEXS is primarily determined by the tissue expression pattern of relevant genes and by the structural property of promoter-associated exons of chimeric mRNA.