Endocrine Abstracts

Mutations that inactivate one allele of the gene encoding the calcium sensing receptor (CaSR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas homozygous mutations cause neonatal severe hyperparathyroidism (SNHPT).Objective: We describe the identification and biochemical characterization of a novel CASR gene mutation that caused SNHPT and FHH in a consanguineous kindred.Design: The study design involved ...