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Article

A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout disease.

Journal of human genetics - 1 Nov 2020

Nozawa Akifumi, Ozeki Michio, Niihori Tetsuya, Suzui Natsuko, Miyazaki Tatsuhiko, Aoki Yoko

Abstract excerpt

Gorham-Stout disease (GSD), a rare disorder of unknown etiology, is characterized by massive osteolysis that is associated with proliferation and dilation of lymphatic vessels. Variants in cancer-associated genes have been described in complex lymphatic anomalies. To explore the pathogenesis of GSD, we performed the amplicon-based deep sequencing on 50 cancer-related genes to assay affected tissues from the six...

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PMID: 32591603
DOI: 10.1038/s10038-020-0794-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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