New Concepts About Familial Isolated Hyperparathyroidism.
CONCLUSIONS: The current concept of FIHP led to a focus on small kindreds without mutation of MEN1, CASR, or CDC73. These assisted in the identification of germline activating GCM2 mutations in 17%. There is a need for clinical and mutational characterization in more cases to determine any unique clinical features of FIHP, either with or without mutation of GCM2.
PMID: 30848815 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Marx SJ Tags: J Clin Endocrinol Metab Source Type: research