Article
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.
The Journal of clinical endocrinology and metabolism - 1 Aug 2017
Faucz Fabio R, Tirosh Amit, Tatsi Christina, Berthon Annabel, Hernández-Ramírez Laura C, Settas Nikolaos, Angelousi Anna, Correa Ricardo, Papadakis Georgios Z, Chittiboina Prashant, Quezado Martha, Pankratz Nathan, Lane John, Dimopoulos Aggeliki, Mills James L, Lodish Maya, Stratakis Constantine A
Abstract excerpt
Context: Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene have been recently identified as the most common genetic alteration in patients with Cushing disease (CD). However, the frequency of these mutations in the pediatric population has not been extensively assessed. Objective: We investigated the status of the USP8 gene at the somatic level in a cohort of pediatric patients with corticotroph...
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