Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL)

Germline SDHA mutations are reported in a minority of pheochromocytoma/paraganglioma (PPGL) cases but are associated with an increased risk of malignancy, leading some to advocate cascade genetic testing and surveillance screening of “at-risk” first-degree relatives. However, such approaches rely on...

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Detalles Bibliográficos
Autores principales: Maniam, Pavithran, Zhou, Kaixin, Lonergan, Mike, Berg, Jonathan N, Goudie, David R, Newey, Paul J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2018
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030830/
https://www.ncbi.nlm.nih.gov/pubmed/29978154
http://dx.doi.org/10.1210/js.2018-00120

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