Condition: HYPERPARATHYROIDISM, NEONATAL SEVERE


rs104893690 in CASR gene and HYPERPARATHYROIDISM, NEONATAL SEVERE PMID 8878438 1996 Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

PMID 8675635 1995 Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

PMID 14985373 2004 Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

PMID 9253359 1997 Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.

PMID 15572418 2005 Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.

PMID 27434672 2016 Structural mechanism of ligand activation in human calcium-sensing receptor.

PMID 17555508 2007 Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.

PMID 24854525 2014 A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.