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Experience Completing Population Screening for Variants Associated With Endocrine Tumor Syndromes in a Large, Healthcare-Based Cohort

Hereditary endocrine tumor syndromes (ETS) including Multiple Endocrine Neoplasia Types 1 and 2 (MEN1 and MEN2), von Hippel-Lindau (VHL), and Hereditary Paraganglioma and Pheochromocytoma syndromes (PGL/PCC) have a collective prevalence of 1 in 8500. In current practice, patients’ personal and famil...

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Detalles Bibliográficos
Autores principales: Savatt, Juliann M, Deckard, Nicole M, Thone, Gretchen, McDonald, Whitney S, Alvi, Madiha M, Purdy, Nicholas C, Lindemann, Timothy L, Sturm, Amy C, Buchanan, Adam H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090758/
http://dx.doi.org/10.1210/jendso/bvab048.1026