A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
Fiche publication
Date publication
mai 2021
Journal
Endocrine
Auteurs
Membres identifiés du Cancéropôle Est :
Dr BOULAGNON-ROMBI Camille
Tous les auteurs :
Le Collen L, Barraud S, Braconnier A, Coppin L, Zachar D, Boulagnon C, Deguelte S, Souchon PF, Spodenkiewicz M, Poirsier C, Aubert S, Odou MF, Delemer B
Lien Pubmed
Résumé
We described the phenotype of a large 4-generation family with Hyperparathyrodism-Jaw Tumor syndrome (HPT-JT) associated with a rare deletion of exon 3 of the CDC73 gene.
Mots clés
CDC73, HRPT2, Hyperparathyroidism, Jaw Tumors, Knudson two-hit hypothesis., Large rearrangements
Référence
Endocrine. 2021 May 17;: