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Article

Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism.

The Journal of clinical endocrinology and metabolism - 1 Aug 2004

Ward Bryan K, Magno Aaron L, Davis Elizabeth A, Hanyaloglu Aylin C, Stuckey Bronwyn G A, Burrows Mark, Eidne Karin A, Charles Adrian K, Ratajczak Thomas

Abstract excerpt

Heterozygous inactivating mutations of the calcium-sensing receptor (CaR) cause familial hypocalciuric hypercalcemia, whereas homozygous or compound heterozygous inactivating mutations normally cause neonatal severe hyperparathyroidism. In a case of neonatal severe hyperparathyroidism characterized by moderately severe hypercalcemia and very high PTH levels, coupled with evidence of hyperparathyroidism and...

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Source

Identifiers

PMID: 15292296
DOI: 10.1210/jc.2003-031653

Genes

PTH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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