As for the clinical features associated with these mutations, it has been reported in a case series that USP48-mutated corticotrope adenomas (evaluated via exome and Sanger sequencing of fresh and/or formalin-fixed tumor samples) showed a smaller size and higher prevalence among female patients compared with USP8-/USP48-WT tumors [41]. The gene discussed is USP48; the disease is neoplasm.