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A Novel, Likely Pathogenic MAX Germline Variant in a Patient With Unilateral Pheochromocytoma

CONTEXT: Inherited MYC-associated factor X (MAX) gene pathogenic variants (PVs) increase risk for pheochromocytomas (PCCs) and/or paragangliomas (PGLs) in adults and children. There is little clinical experience with such mutations. OBJECTIVE: This report highlights an important approach. METHODS: C...

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Detalles Bibliográficos
Autores principales: Lam-Chung, César Ernesto, Rodríguez, Larissa López, Vázquez, Jazmín Arteaga, Chávarri-Guerra, Yanin, Arízaga-Ramírez, Rebeca, Antonio, Orlando Falcon, De Anda González, Jazmín, López-Hernández, María Aurelia, Weitzel, Jeffrey N, Castillo, Danielle, Gómez-Pérez, Francisco Javier, Cuevas-Ramos, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8218934/
https://www.ncbi.nlm.nih.gov/pubmed/34169220
http://dx.doi.org/10.1210/jendso/bvab085