"Familial isolated hyperparathyroidism is inherited in an autosomal dominant fashion without MEN1, CASR, or CDC73 germline mutations 2,3. Activating mutations in the GCM2 gene have been identified in 15-20% of patients; however, the genetic cause remains unknown in most patients 1-3."
"Familial isolated hyperparathyroidism is inherited in an autosomal dominant fashion without MEN1, CASR, or CDC73 germline mutations 2,3. Activating mutations in the GCM2 gene have been identified in 15-20% of patients; however, the genetic cause remains unknown in most patients 1-3."