Article
A somatic MAP3K3 mutation is associated with verrucous venous malformation.
American journal of human genetics - 5 Mar 2015
Couto Javier A, Vivero Matthew P, Kozakewich Harry P W, Taghinia Amir H, Mulliken John B, Warman Matthew L, Greene Arin K
Abstract excerpt
Verrucous venous malformation (VVM), also called "verrucous hemangioma," is a non-hereditary, congenital, vascular anomaly comprised of aberrant clusters of malformed dermal venule-like channels underlying hyperkeratotic skin. We tested the hypothesis that VVM lesions arise as a consequence of a somatic mutation. We performed whole-exome sequencing (WES) on VVM tissue from six unrelated individuals and looked for...
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