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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發表在:J Clin Endocrinol Metab
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: Endocrine Society 2017
主題:
Clinical Research Articles
在線閱讀: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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