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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...

Topics

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Adolescent
Capillaries
Child
Child, Preschool
Class I Phosphatidylinositol 3-Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

p120 GTPase Activating Protein

Vascular Malformations

Source

Open in PubMed Open full text

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 1 Sept 2026.

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