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Genomic Basis of Aromatase Excess Syndrome: Recombination- and Replication-Mediated Rearrangements Leading to CYP19A1 Overexpression

25 Sept 2013

Abstract excerpt

CONTEXT: Genomic rearrangements at 15q21 have been shown to cause overexpression of CYP19A1 and resultant aromatase excess syndrome (AEXS). However, mutation spectrum, clinical consequences, and underlying mechanisms of these rearrangements remain to be elucidated. OBJECTIVE: The aim of the study was to clarify such unsolved matters. DESIGN, SETTING, AND METHODS: We characterized six new rearrangements and...

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PMID: 24064691
DOI: 10.1210/jc.2013-2520

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