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Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation.

Namita Ganesh Hattangady1, Tremika Le-Shan Wilson1, Barbra Sue Miller2

  • 1Department of Internal Medicine, Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, MI, USA.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|April 11, 2017
PubMed
Summary

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Hereditary primary hyperparathyroidism (pHPT) requires different care than sporadic pHPT. Functional analysis confirmed a new CDC73 variant as likely pathogenic, aiding in accurate diagnosis and management.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Distinguishing hereditary from sporadic primary hyperparathyroidism (pHPT) is crucial for patient management and surveillance.
  • Classifying genetic variants as benign or pathogenic is challenging, necessitating functional studies.
  • A case of recurrent pHPT in a 52-year-old male with a novel CDC73 variant is presented.
Keywords:
CDC73HYPERPARATHYROIDISMPARAFIBROMINSPLICE MUTATION

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