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N. Baena-Díez

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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. · 0 citations

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