Browsing Centre for Endocrinology by Subject "Disease Progression"
Now showing items 1-2 of 2
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Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
(2020-03)Objective: CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype and evolution in a male sibship identified ... -
Somatic USP8 mutations are frequent events in corticotroph tumor progression causing Nelson's tumor.
(2018-01)OBJECTIVE: Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are frequent in corticotroph tumors causing Cushing's disease (CD). Corticotroph tumor progression, the so-called Nelson's syndrome (NS), is a ...