SUN-032 Exome Sequencing Reveals that Pathogenic RET Variants Occur at Higher Prevalence Than Previously Recognized: Data from a US Health System Biobank

Background: Multiple Endocrine Neoplasia Syndrome Type 2 (MEN2) is an inherited endocrine disorder characterized by the development of pheochromocytoma, medullary thyroid carcinoma (MTC) and parathyroid neoplasia. MEN2 is autosomal dominant and occurs from activating missense variants in the RET pro...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Guzman, Heidi, Gallagher, Emily, Belbin, Gillian, Cullina, Sinead, Haber, Richard, Cho, Judy, Kenny, Eimear, Abdul-Husn, Noura
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Genetics and Development (including Gene Regulation)
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553222/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-032
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