Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease

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: W...

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Dettagli Bibliografici
Pubblicato in:J Clin Endocrinol Metab
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2017
Soggetti:
Clinical Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5546857/
https://ncbi.nlm.nih.gov/pubmed/28505279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2017-00161
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