GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models

GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models

Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by the formation of dilated, dysfunctional blood vessels in the dermis, eyes, and/or brain. Cutaneous PWBs can be treated by current de...

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Bibliographic Details
Main Authors: William K. Van Trigt, Kristen M. Kelly, Christopher C. W. Hughes
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Human Neuroscience
Subjects:
GNAQ
guanine nucleotide binding protein alpha subunit q
Gαq
port wine birthmark
Sturge-Weber syndrome
brain vascular malformation
Online Access:https://www.frontiersin.org/articles/10.3389/fnhum.2022.1006027/full

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