Developmental vascular malformations in EPAS1 gain-of-function syndrome
Mutations in EPAS1, encoding hypoxia-inducible factor-2α (HIF-2α), were previously identified in a syndrome of multiple paragangliomas, somatostatinoma, and polycythemia. HIF-2α, when dimerized with HIF-1β, acts as an angiogenic transcription factor. Patients referred to the NIH for new, recurrent,...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
American Society for Clinical investigation
2021-03-01
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Series: | JCI Insight |
Subjects: | |
Online Access: | https://doi.org/10.1172/jci.insight.144368 |