Article
A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.
Angiogenesis - 1 Aug 2017
Couto Javier A, Ayturk Ugur M, Konczyk Dennis J, Goss Jeremy A, Huang August Y, Hann Steve, Reeve Jennifer L, Liang Marilyn G, Bischoff Joyce, Warman Matthew L, Greene Arin K
Abstract excerpt
BACKGROUND: Capillary malformation is a cutaneous vascular anomaly that is present at birth, darkens over time, and can cause overgrowth of tissues beneath the stain. The lesion is caused by a somatic activating mutation in GNAQ. In a previous study, we were unable to identify a GNAQ mutation in patients with a capillary malformation involving an overgrown lower extremity. We hypothesized that mutations in GNA11...
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