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New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations

CONTEXT: Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in the VHL gene. Guidelines recommend pheochromocytoma (PHEO) biochemical screening should start at age 5 years. OBJECTIVE: Genotype–phenotype correlations in VHL, focusing on PHEO penetrance in c...

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Detalles Bibliográficos
Autores principales: Fagundes, Gustavo F C, Petenuci, Janaina, Lourenco, Delmar M, Trarbach, Ericka B, Pereira, Maria Adelaide A, Correa D’Eur, Joya Emilie, Hoff, Ana O, Lerario, Antonio M, Zerbini, Maria Claudia N, Siqueira, Sheila, Yamauchi, Fernando, Srougi, Victor, Tanno, Fabio Y, Chambo, Jose Luis, Latronico, Ana Claudia, Mendonca, Berenice B, Fragoso, Maria Candida B V, Almeida, Madson Q
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735756/
https://www.ncbi.nlm.nih.gov/pubmed/31528828
http://dx.doi.org/10.1210/js.2019-00225