Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.

external link
2.

Orphanet article

Orphanet ID 99879 external link
3.

OMIM.ORG article

Omim 610071 external link
Update: Aug. 14, 2020
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