Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition

OBJECTIVE: To investigate the effect of somatic, postzygotic, gain-of-function mutation of Endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1) encoding hypoxia-inducible factor-2α (HIF-2α) on posterior fossa development and spinal dysraphism in EPAS1 gain-of-function syndrome, which consists of...

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Detalles Bibliográficos
Autores principales: Rosenblum, Jared S., Cappadona, Anthony J., Argersinger, Davis P., Pang, Ying, Wang, Herui, Nazari, Matthew A., Munasinghe, Jeeva P., Donahue, Danielle R., Jha, Abhishek, Smirniotopoulos, James G., Miettinen, Markku M., Knutsen, Russell H., Kozel, Beth A., Zhuang, Zhengping, Pacak, Karel, Heiss, John D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164966/
https://www.ncbi.nlm.nih.gov/pubmed/32337341
http://dx.doi.org/10.1212/NXG.0000000000000414

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