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

Internet

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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