Article
Genetic drivers of Cushing's disease: Frequency and associated phenotypes.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2022
Hernández-Ramírez Laura C, Pankratz Nathan, Lane John, Faucz Fabio R, Chittiboina Prashant, Kay Denise M, Beethem Zachary, Mills James L, Stratakis Constantine A
Abstract excerpt
PURPOSE: Cushing's disease (CD) is often explained by a single somatic sequence change. Germline defects, however, often go unrecognized. We aimed to determine the frequency and associated phenotypes of genetic drivers of CD in a large cohort. METHODS: We studied 245 unrelated patients with CD (139 female, 56.7%), including 230 (93.9%) pediatric and 15 (6.1%) adult patients. Germline exome sequencing was...
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