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

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. Patients wi...

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Detalles Bibliográficos
Autores principales: Garrigues, Guilhaume, Batisse‐Lignier, Marie, Uhrhammer, Nancy, Privat, Maud, Ponelle‐Chachuat, Flora, Kelly, Antony, Gay‐Bellile, Mathilde, Viala, Sandrine, Bidet, Yannick, Bignon, Yves‐Jean, Cavaillé, Mathias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178793/
https://www.ncbi.nlm.nih.gov/pubmed/36639964
http://dx.doi.org/10.1002/mgg3.2133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178793/
https://www.ncbi.nlm.nih.gov/pubmed/36639964
http://dx.doi.org/10.1002/mgg3.2133

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