1.
Chinese Journal of Endocrinology and Metabolism
;
(12): 437-439, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-933428
RESUMO
The majority of primary hyperparathyroidism (PHPT) are sporadic, and less than 10% of cases are hereditary or part of familial syndromes. Glial cell missing 2 (GCM2) was confirmed to be a new pathogenic gene of PHPT in 2016. At present, four GCM2 mutations have been confirmed to have certain correlations with familial or sporadic PHPT. The purpose of this review is to summarize the pathogenesis and clinical features of GCM2 mutation related primary hyperparathyroidism.