Article
Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.
International journal of molecular sciences - 9 Nov 2024
Martínez de Lapiscina Idoia, Diego Estrella, Baquero Candela, Fernández Elsa, Menendez Edelmiro, Moure Maria Dolores, Ruiz de Azua Teresa, Castaño Luis, Valdés Nuria, On Behalf Of The Collaborative Working Group
Abstract excerpt
Pheochromocytomas (PCCs) and paragangliomas (PGLs), denoted PPGLs, are rare neuroendocrine tumours and are highly heterogeneous. The phenotype-genotype correlation is poor; therefore, additional studies are needed to understand their pathogenesis. We describe the clinical characteristics of 63 patients with PPGLs and perform a genetic study. Genetic screening was performed via a targeted gene panel, and clinical...
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