Hyperparathyroidism-jaw tumor syndrome | About the Disease | GARD

Find symptoms and other information about Hyperparathyroidism-jaw tumor syndrome.

Hyperparathyroidism Jaw Tumor Syndrome, an Unforeseen Diagnosis. - 상세정보 | 인제대학교 의학도서관

A cell division cycle 73 (CDC73) pathogenic variant, in keeping with primary hyperparathyroidism jaw tumor syndrome, was identified. [ABSTRACT FROM AUTHOR] Copyright of JCEM Case Reports is...

Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor S

Abstract Context: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a heritable form of primary hyperparathyroidism caused by germline inactivating mutations in CDC73 encoding parafibromin...

Hyperparathyroidism-jaw tumor syndrome: Results of operative management

Abstract Background: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2...

Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalce

Ossifying fibromas of the maxillofacial bones are an uncommon form of benign neoplasm usually treated by surgical excision. Up to 30% of patients with hyperparathyroidism-jaw tumor syndrome, a rare...

A family case report of parathyroid carcinoma associated with CDC73 mutation in - 상세정보 | 인제대학교 의....

Among these, hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder caused by CDC73 mutations with variable clinical presentations and incomplete symptoms. Case...

[논문]Hyperparathyroidism-jaw tumor syndrome: Results of operative management

Background: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73. The aim of t...

Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2,

Parafibromin is the 531-amino-acid protein product encoded by HRPT2, a putative tumor suppressor gene recently implicated in the autosomal dominant hyperparathyroidism-jaw tumor familial cancer syn...

Hyperparathyroidism-jaw tumor syndrome: MedlinePlus Genetics

Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). Explore symptoms, inheritance, genetics of this condition.

Hyperparathyroidism-jaw tumor syndrome: a case report

We report the clinical and genetic findings in a 23-year-old woman with hyperparathyroidism-jaw tumor syndrome (HPT-JT). The patient had a family history of primary hyperparathyroidism (PHPT) and u...