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Article

Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation

23 Jun 2016

Abstract excerpt

OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentrations. ADH type 1 is caused by activating mutations in the calcium-sensing receptor (CASR), a G-protein-coupled receptor signaling through α11 (Gα11) and αq (Gαq) subunits. Heterozygous activating mutations in GNA11, the gene encoding Gα11, underlie ADH type 2. This study describes disease...

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PMID: 27334330
DOI: 10.1530/eje-16-0109

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