Ontology highlight
ABSTRACT:
SUBMITTER: Guarnieri V
PROVIDER: S-EPMC5543551 | biostudies-other | 2017 Aug
REPOSITORIES: biostudies-other
Guarnieri Vito V Seaberg Raewyn M RM Kelly Catherine C Jean Davidson M M Raphael Simon S Shuen Andrew Y AY Baorda Filomena F Palumbo Orazio O Scillitani Alfredo A Hendy Geoffrey N GN Cole David E C DEC
BMC medical genetics 20170803 1
<h4>Background</h4>Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter.<h4>Methods</h4>The proband had primary hyperparathyroidism (parathyroid carcinoma) and uterine leiomyomata. Her father and daughter had hyperparathyroidism (parathyroid adenoma) but no other manifestat ...[more]