Genotypes and Phenotypes of 162 Families with a <b><i>Glomulin</i></b> Mutation

Abstract excerpt

A decade ago, we identified a novel gene, glomulin (GLMN) in which mutations cause glomuvenous malformations (GVMs). GVMs are bluish-purple cutaneous vascular lesions with characteristic glomus cells in the walls of distended venous channels. The discovery of the genetic basis for GVMs allowed the definition of clinical features to distinguish GVMs from other venous anomalies. The variation in phenotype was also...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Soft tissue tumors and treatment