Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Familial Isolated Hyperparathyroidism

Familial Isolated Hyperparathyroidism is an autosomal dominant disorder caused by activating mutation of the GCM2 gene.

Systematic

Hyperparathyroidism
AP2S1
CASR
CDC73
Familial Isolated Hyperparathyroidism
GCM2
GNA11

References:

1.

Guan B et. al. (2016) GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

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Update: Sept. 26, 2018