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Article

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

American journal of human genetics - 3 Nov 2016

Guan Bin, Welch James M, Sapp Julie C, Ling Hua, Li Yulong, Johnston Jennifer J, Kebebew Electron, Biesecker Leslie G, Simonds William F, Marx Stephen J, Agarwal Sunita K

Abstract excerpt

Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. The specific...

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Identifiers

PMID: 27745835
DOI: 10.1016/j.ajhg.2016.08.018
PMCID: PMC5097944

Genes

GCM2

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