Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New...
Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome
About this item
Full title
Author / Creator
Publisher
Washington, DC: Endocrine Society
Journal title
Language
English
Formats
Publication information
Publisher
Washington, DC: Endocrine Society
Subjects
More information
Scope and Contents
Contents
Abstract
Background
Somatic mutations in the ubiquitin-specific peptidase 8 (USP8) gene are common in corticotropinomas of children with Cushing disease (CD). We report a unique patient with a germline USP8 mutation who presented with CD and a constellation of other findings that constitute an intriguing genetic syndrome.
Case Description<...
Alternative Titles
Full title
Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6736211
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6736211
Other Identifiers
ISSN
0021-972X,1945-7197
E-ISSN
1945-7197
DOI
10.1210/jc.2019-00697
