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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...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Endocrine Society
2019
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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 |