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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Detaylı Bibliyografya
Yayımlandı:J Clin Endocrinol Metab
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Endocrine Society 2017
Konular:
Clinical Research Articles
Online Erişim: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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