Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease
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Author / Creator
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 and Stratakis, Constantine A
Publisher
Washington, DC: Endocrine Society
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Language
English
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Publisher
Washington, DC: Endocrine Society
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Scope and Contents
Contents
ContextSomatic 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.ObjectiveWe investigated the status of the USP8 gene at the somat...
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Full title
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5546857
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5546857
Other Identifiers
ISSN
0021-972X
E-ISSN
1945-7197
DOI
10.1210/jc.2017-00161
