CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
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Washington, DC: Endocrine Society
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Language
English
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Publisher
Washington, DC: Endocrine Society
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Contents
ContextHeterozygous 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.ObjectiveTo assess the clinical manifestations and...
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Full title
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
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TN_cdi_proquest_miscellaneous_1952525769
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1952525769
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ISSN
0021-972X
E-ISSN
1945-7197
DOI
10.1210/jc.2017-01249
