RF09 | PSUN29 Evidence for a Founder Effect of SDHB Exon 1 Complete Deletion in Brazilian Patients with Paraganglioma

BACKGROUND: Pheochromocytomas and paragangliomas (PPGLs) have the highest degree of heritability among endocrine tumors. Currently, ∼40% of PPGL individuals have a genetic germline pathogenic variant and exist at least 12 different genetic syndromes related to these tumors. Pathogenic variants in th...

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Detalles Bibliográficos
Autores principales: Fagundes, Gustavo F, Almeida, Madson Q, Santana, Lucas, Castro, Felipe, Afonso, Ana Caroline, Petenuci, Janaina, Funari, Mariana, Guimarães, Augusto G, Sales, Elaine V, Vieites, Ana, Sanso, Gabriela, Ledesma, Felipe L, Siqueira, Sheila, Pereira, Maria Adelaide A, Tanno, Fabio Y, Srougi, Vitor, Chambo, Jose L, Victor, Carolina R, Ferrari, Marcela S, Coelho, Fernando M, Soares, Silvia C, Latronico, Ana Claudia, Mendonca, Berenice B, Fragoso, Maria Candida BV, Hoff, Ana O
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Adrenal
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9629149/
http://dx.doi.org/10.1210/jendso/bvac150.273

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9629149/
http://dx.doi.org/10.1210/jendso/bvac150.273

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