Article

Similarities and differences between brain and skin <i>GNAQ</i> p.R183Q driven capillary malformations

2024-06-19

Abstract excerpt

Capillary malformations (CM) are congenital vascular irregularities of capillary and venous blood vessels that appear in the skin, leptomeninges of the brain, and the choroid of the eye in the disorder known as Sturge Weber Syndrome (SWS). More common are non-syndromic CM found only in the skin, without brain or ocular involvement. A somatic activating mutation in GNAQ (p.R183Q) is found in ∼90% of syndromic and...

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Literature Corpus work: 0273f939-14fc-5f46-8a84-5459f3bda18e
DOI: 10.1101/2024.06.19.599711

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