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Article

Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.

Cold Spring Harbor molecular case studies - 1 Dec 2021

Sheppard Sarah E, Sanders Victoria R, Srinivasan Abhay, Finn Laura S, Adams Denise, Elton Andrew, Amlie-Lefond Catherine, Nelson Zoe, Dmyterko Victoria, Jensen Dana, Zenner Kaitlyn, Perkins Jonathan, Bennett James T

Abstract excerpt

Disorganized morphogenesis of arteries, veins, capillaries, and lymphatic vessels results in vascular malformations. Most individuals with isolated vascular malformations have postzygotic (mosaic), activating pathogenic variants in a handful of oncogenes within the PI3K-RAS-MAPK pathway (Padia et al., Laryngoscope Investig Otolaryngol 4: 170-173 [2019]). Activating pathogenic variants in the gene PIK3CA, which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34887309
DOI: 10.1101/mcs.a006147
PMCID: PMC8751408

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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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