Somatic EPAS1 variants in phaeochromocytoma and paraganglioma in patients with sickle cell disease.

Gemma White,Daisuke Nonaka,Teng-Teng Chung,Rebecca J Oakey,Louise Izatt

The Journal of clinical endocrinology and metabolism（2023）

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摘要

We propose that somatic EPAS1 variants may be acquired through exposure to chronic hypoxia in SCD and drive PPGL development. Future work is needed to further characterise this association.

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