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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Detalles Bibliográficos
Publicado en:J Clin Endocrinol Metab
Autores principales: 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
Lenguaje:Inglês
Publicado: Endocrine Society 2017
Materias:
Clinical Research Articles
Acceso en línea: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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