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Article

A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.

Vascular - 1 Feb 2021

Palmieri Maria, Pinto Anna Maria, di Blasio Laura, Currò Aurora, Monica Valentina, Sarno Laura Di, Doddato Gabriella, Baldassarri Margherita, Frullanti Elisa, Giliberti Annarita, Mussolin Benedetta, Fallerini Chiara, Molinaro Francesco, Vaghi Massimo, Renieri Alessandra, Primo Luca

Abstract excerpt

OBJECTIVES: Somatic mosaicism of PIK3CA gene is currently recognized as the molecular driver of Klippel-Trenaunay syndrome. However, given the limitation of the current technologies, PIK3CA somatic mutations are detected only in a limited proportion of Klippel-Trenaunay syndrome cases and tissue biopsy remains an invasive high risky, sometimes life-threatening, diagnostic procedure. Next generation sequencing...

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Identifiers

PMID: 32588787
DOI: 10.1177/1708538120936421

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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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