B-309 Codon 84 as a Potential Molecular Hotspot: Germline VHL p.Val84Met Presenting as Isolated Bilateral Pheochromocytoma
Von Hippel–Lindau disease (VHL) is an autosomal dominant cancer predisposition syndrome caused by pathogenic variants in the VHL gene, leading to impaired degradation of hypoxia-inducible factor (HIF) and dysregulated angiogenic signaling. Missense variants are commonly associated with pheochromocytoma-predominan...