Rare duplication of the CDC73 gene and atypical hyperparathyroidism‐jaw tumor syndrome: A case report and review of the literature

Rare duplication of the CDC73 gene and atypical hyperparathyroidism‐jaw tumor syndrome: A case report and review of the literature

Abstract Background Hyperparathyroidism jaw‐tumor syndrome (HPT‐JT) is the rarest familial cause of primary hyperparathyroidism, with an incidence <1/1000000, caused by a pathogenic variant in the CDC73 (or HRPT2) gene that encodes parafibromin, a protein involved in many cellular mechanisms. Pat...

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Bibliographic Details
Main Authors: Guilhaume Garrigues, Marie Batisse‐Lignier, Nancy Uhrhammer, Maud Privat, Flora Ponelle‐Chachuat, Antony Kelly, Mathilde Gay‐Bellile, Sandrine Viala, Yannick Bidet, Yves‐Jean Bignon, Mathias Cavaillé
Format: Article
Language:English
Published: Wiley 2023-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
adenomyosis
CDC73
HPT‐JT syndrome
rare duplication
Online Access:https://doi.org/10.1002/mgg3.2133

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