RF01 | PMON167 Isolated Cushing's Disease Associated With Rare Germline SDHx Variants

INTRODUCTION: Loss-of-function (LOF) germline variants in the SDHx genes (SDHA, SDHB, SDHC, and SDHD), encoding the succinate dehydrogenase subunits, are a rare cause for pituitary tumors in the setting of various familial tumor syndromes. Occasional case reports have highlighted SDHx mutations in i...

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Detalles Bibliográficos
Autores principales: Chittiboina, Prashant, Kay, Denise M, Mills, James L, Stratakis, Constantine A, Hernãndez-Ramírez, Laura C, Pankratz, Nathan, Lane, John, Faucz, Fabio R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Neuroendocrinology and Pituitary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625457/
http://dx.doi.org/10.1210/jendso/bvac150.1194

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625457/
http://dx.doi.org/10.1210/jendso/bvac150.1194

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