A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.

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

https://www.ncbi.nlm.nih.gov/pubmed/33999366

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;: