Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Character...
Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Characterization of a Novel USP8 Gene Variant
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Publisher
Basel: MDPI AG
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Language
English
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Publisher
Basel: MDPI AG
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Scope and Contents
Contents
Cushing’s Disease (CD) is a rare condition characterized by an overproduction of ACTH by an ACTH-secreting pituitary tumor, resulting in an excess of cortisol release by the adrenal glands. Somatic mutations in the deubiquitinases USP8 and USP48, and in BRAF genes, have been reported in a subset of patients affected by CD. The aim of this study was...
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Full title
Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Characterization of a Novel USP8 Gene Variant
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8392476
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8392476
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ISSN
2072-6694
E-ISSN
2072-6694
DOI
10.3390/cancers13164022
