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A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant

At least 30% of all pheochromocytomas (PCCs)/paragangliomas (PGLs) arise in patients with a germline predisposition syndrome. Variants in succinate dehydrogenase subunits A, B, C, and D (SDHA, SDHB, SDHC, and SDHD) are the most common pathogenic germline alterations. Few pathogenic variants have bee...

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Detalles Bibliográficos
Autores principales: Wolf, Katherine I, Jacobs, Michelle F, Mehra, Rohit, Begani, Priya, Davenport, Matthew S, Marentette, Lawrence J, Basura, Gregory J, Hughes, David T, Else, Tobias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821206/
https://www.ncbi.nlm.nih.gov/pubmed/31687641
http://dx.doi.org/10.1210/js.2018-00353