Searchable abstracts of presentations at key conferences in endocrinology

ea0063p106 | Calcium and Bone 1 | ECE2019

Case Report of a large family with hyperparathyroidism- jaw tumor syndrome (HPT-JT) and a deletion of the third exon of CDC73

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...