Cargando…
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...
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 |
Ejemplares similares
-
Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma
por: Dwight, Trisha, et al.
Publicado: (2017) -
OR08-04 Paradigm Shift In SDHAF2-Related Familial Paraganglioma Syndrome
por: Fernandez-Pombo, Antia, et al.
Publicado: (2023) -
Tinnitus With Unexpected Spanish Roots: Head and Neck Paragangliomas Caused by SDHAF2 Mutation
por: Roose, Laura Maria, et al.
Publicado: (2020) -
MON-380 Tinnitus with Unexpected Spanish Roots: Head and Neck Paragangliomas Caused by SDHAF2 Mutation
por: Roose, Laura, et al.
Publicado: (2019) -
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas
por: Hoekstra, Attje S., et al.
Publicado: (2017)