A Novel KDR Mutation in an Infant With a Non-Involuting Congenital Hemangioma.

Abstract excerpt

Congenital hemangioma (CH) is a rare, benign vascular tumor present at birth and molecularly characterized by somatic mutations in angiogenic signaling pathways, most commonly activating mutations in GNA11 and GNAQ, although additional genetic drivers remain incompletely defined. Genomic sequencing of lesional tissue from a child with a non-involuting congenital hemangioma (NICH) identified a likely pathogenic...

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