SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas

SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas

Pheochromocytomas (PCCs) and paragangliomas (PGLs) (known as PPGL in combination) are rare neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia. About 40% of the patients with PPGL have a hereditary predisposition. Here we present a case-series of 19 unrelated Colombian patients wi...

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Bibliographic Details
Main Authors: María Carolina Manotas, Ana Lucía Rivera, Ana Milena Gómez, Patricia Abisambra, Gonzalo Guevara, Vilma Medina, Sandra Tapiero, Antonio Huertas, Julián Riaño-Moreno, Juan Carlos Mejía, Angélica María Gonzalez-Clavijo, Mireya Tapiero-García, Andrés Arturo Cuéllar-Cuéllar, Luis Felipe Fierro-Maya, María Carolina Sanabria-Salas
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Genetics
Subjects:
pheochromocytomas
paragangliomas
germline mutation
succinate dehydrogenase subunit B
human
neoplastic syndromes
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.999329/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.999329/full

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