Sandrine Viala

No ORCID on file · 1 paper in corpus · active 2023

Study types

  • review 1

Condition tags

  • adenomyosis 1
review 2023
Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature
Molecular genetics & genomic medicine ·doi:10.1002/mgg3.2133

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 …