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Start Over Author "Flora Ponelle-Chachuat" Journal molecular genetics & genomic medicine
1 results on '"Flora Ponelle-Chachuat"'

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

Author

Guilhaume Garrigues, Marie Batisse‐Lignier, Nancy Uhrhammer, Maud Privat, Flora Ponelle‐Chachuat, Antony Kelly, Mathilde Gay‐Bellile, Sandrine Viala, Yannick Bidet, Yves‐Jean Bignon, and Mathias Cavaillé

Subjects
adenomyosis, CDC73, HPT‐JT syndrome, rare duplication, Genetics, QH426-470
Abstract

Abstract Background Hyperparathyroidism jaw‐tumor syndrome (HPT‐JT) is the rarest familial cause of primary hyperparathyroidism, with an incidence

Published
2023
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