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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Detalles Bibliográficos
Autores principales: Manotas, María Carolina, Rivera, Ana Lucía, Gómez, Ana Milena, Abisambra, Patricia, Guevara, Gonzalo, Medina, Vilma, Tapiero, Sandra, Huertas, Antonio, Riaño-Moreno, Julián, Mejía, Juan Carlos, Gonzalez-Clavijo, Angélica María, Tapiero-García, Mireya, Cuéllar-Cuéllar, Andrés Arturo, Fierro-Maya, Luis Felipe, Sanabria-Salas, María Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845289/
https://www.ncbi.nlm.nih.gov/pubmed/36685941
http://dx.doi.org/10.3389/fgene.2022.999329

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845289/
https://www.ncbi.nlm.nih.gov/pubmed/36685941
http://dx.doi.org/10.3389/fgene.2022.999329

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