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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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6735756/
https://ncbi.nlm.nih.gov/pubmed/31528828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-00225
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