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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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Detalles Bibliográficos
Autores principales:	Van Trigt, William K., Kelly, Kristen M., Hughes, Christopher C. W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Human Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670321/ https://www.ncbi.nlm.nih.gov/pubmed/36405075 http://dx.doi.org/10.3389/fnhum.2022.1006027

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