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Whole-Genome Sequencing Identified KCNJ12 and SLC25A5 Mutations in Port-Wine Stains

Port-wine stains (PWSs) are a congenital capillary malformed disorder and are caused by a number of somatic mutations that disrupt vascular development. However, the underlying genetic mutations in the pathogenesis of PWS have not yet been fully elucidated. To understand PWS genetic variations and i...

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Detalles Bibliográficos
Autores principales: Chen, Kai, Hu, Yan-Yan, Wang, Lin-Lin, Xia, Yun, Jiang, Qian, Sun, Lan, Qian, Shan-Shan, Wu, Jin-Zhao, Chen, Liu-Qing, Li, Dong-Sheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9348515/
https://www.ncbi.nlm.nih.gov/pubmed/35935790
http://dx.doi.org/10.3389/fmed.2022.905902