ea0063p106 | Calcium and Bone 1 | ECE2019
Le Collen Lauriane
, Barraud Sara
, Francoise Odou Marie
, Spodenkiewicz Marta
, Braconnier Antoine
, Zalzali Mohamad
, Poirsier Celine
, Delemer Brigitte
Heterozygote mutations of the gene CDC73 are responsible for 3 types of parathyroid diseases: familial hyperparathyroidism, parathyroid carcinoma, hyperparathyroidism-jaw tumor syndrome (and uterine or kidney lesions). The goal of our study was to describe the phenotype associated with the deletion of the 3rd exon of CDC73 found in a large family.Patients: We have medical records for 25 patients of a large family composed of 44 individu...