Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of <i>DICER1</i> cause GLOW syndrome

Abstract

We propose that mutations affecting the metal binding sites of the DICER1 RNase IIIb domain alter the balance of 3p and 5p microRNAs leading to deregulation of these growth signalling pathways, causing a novel human overgrowth syndrome.