Case report
Open access
Jul 2026
Pheochromocytoma as a manifestation of Neurofibromatosis type 1: Clinical presentation, diagnosis, and genetic analysis.
A 50-year-old woman with a clinical diagnosis of NF1 is presented, based on family history and multiple diagnostic criteria, who presented with episodic abdominal pain and symptoms suggestive of pheochromocytoma, which identified a pathogenic germline splice-site variant in the NF1 gene.
N. Baena-Díez, Ruth Cano-Corres, E. Castellanos et al.
· Clinica chimica acta; intern... · 0 citations