Article
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.
The Journal of clinical endocrinology and metabolism - 1 Dec 2017
van der Tuin Karin, Tops Carli M J, Adank Muriel A, Cobben Jan-Maarten, Hamdy Neveen A T, Jongmans Marjolijn C, Menko Fred H, van Nesselrooij Bernadette P M, Netea-Maier Romana T, Oosterwijk Jan C, Valk Gerlof D, Wolffenbuttel Bruce H R, Hes Frederik J, Morreau Hans
Abstract excerpt
Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT) and, less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related disorders has so far been limited to small case series. Objective: To assess the clinical manifestations and penetrance in CDC73-related disorders and to improve case...
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