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Article

Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations.

American journal of medical genetics. Part A - 1 Oct 2021

Schmidt Vanessa Franziska, Wieland Ilse, Wohlgemuth Walter A, Ricke Jens, Wildgruber Moritz, Zenker Martin

Abstract excerpt

Oncogenic RAS variants lead to constitutive overactivation and increased signal transduction into downstream pathways. They are found as somatic driver events in various types of human cancer. In a somatic mosaic status, the same RAS variants have been associated with a wide spectrum of focal or segmental tissue dysplasia and overgrowth including various types of congenital nevi, vascular malformations, and other...

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Identifiers

PMID: 34114335
DOI: 10.1002/ajmg.a.62386

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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