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Article

Visualizing Genetics: An Investigation of Dermoscopy as a Tool for Genetic Variant Prediction in Capillary Malformations.

Pediatric dermatology - 1 Jan 2026

On Aretha, Caussade Marie-Chantal, Britt Allison, Sheppard Sarah E, Adams Denise, Hogrogian Griffin Stockton, Treat James R

Abstract excerpt

BACKGROUND/OBJECTIVES: Capillary malformations (CMs) are congenital malformations of capillaries typically visible as blanchable, pink to brown patches on the skin and/or mucosa. The genetic cause of CMs guides diagnosis, treatment, and recurrence counseling. However, identification may be limited by the availability of samples, the type of tests, and insurance coverage. We hypothesize that there are distinct...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41063333
DOI: 10.1111/pde.70036
PMCID: PMC12828651

Genes

PIK3CA
EPHB4
GNA11
GNAQ
RASA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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