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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2017
Assuntos:
Clinical Research Articles
Acesso em linha: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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