International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma

BACKGROUND: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of patients and relatives due to the increased risk of recurrences, metastases and the emergence of non-PPGL tum...

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Detalles Bibliográficos
Autores principales: Ben Aim, Laurene, Maher, Eamonn R, Cascon, Alberto, Barlier, Anne, Giraud, Sophie, Ercolino, Tonino, Pigny, Pascal, Clifton-Bligh, Roderick J, Mirebeau-Prunier, Delphine, Mohamed, Amira, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Schiavi, Francesca, Toledo, Rodrigo A, Dahia, Patricia L, Robledo, Mercedes, Bayley, Jean Pierre, Burnichon, Nelly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Cancer Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882202/
https://www.ncbi.nlm.nih.gov/pubmed/34452955
http://dx.doi.org/10.1136/jmedgenet-2020-107652

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