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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Gepubliceerd in:Neurol Genet
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Wolters Kluwer 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7164966/
https://ncbi.nlm.nih.gov/pubmed/32337341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000414
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