Haiyan Yang Yue Chen Kai Liu Liming Zhao
10.3389/fendo.2023.1180091
Front Endocrinol (Lausanne)
2023 Jul 28;14:1180091.
epas1 atrial septal defect hypertension paraganglioma polycythemia
CC BY
https://pubmed.ncbi.nlm.nih.gov/37576964/
Heart Septal Defects, Atrial / genetics Heart Septal Defects, Atrial / pathology Heart Septal Defects, Atrial / therapy Paraganglioma / diagnosis Paraganglioma / genetics Paraganglioma / pathology Paraganglioma / therapy Polycythemia / genetics Polycythemia / pathology Polycythemia / therapy
Heart Septal Defects, Atrial / genetics Heart Septal Defects, Atrial / pathology Heart Septal Defects, Atrial / therapy Paraganglioma / diagnosis Paraganglioma / genetics Paraganglioma / pathology Paraganglioma / therapy Polycythemia / genetics Polycythemia / pathology Polycythemia / therapy Case Reports Research Support, Non-U.S. Gov't Female Humans Middle Aged endothelial PAS domain-containing protein 1
PMC10419204
37576964
Case Report: A novel EPAS1 mutation in a case of paraganglioma complicated with polycythemia and atrial septal defect
2023