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Article

Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.

European journal of endocrinology - 1 Nov 2016

Glaudo Markus, Letz Saskia, Quinkler Marcus, Bogner Ulrich, Elbelt Ulf, Strasburger Christian J, Schnabel Dirk, Lankes Erwin, Scheel Sandra, Feldkamp Joachim, Haag Christine, Schulze Egbert, Frank-Raue Karin, Raue Friedhelm, Mayr Bernhard, Schöfl Christof

Abstract excerpt

BACKGROUND: Homozygous inactivating mutations of the calcium-sensing receptor (CaSR) lead to neonatal severe hyperparathyroidism (NSHPT), whereas heterozygous inactivating mutations result in familial hypocalciuric hypercalcemia (FHH). It is unknown why in some cases heterozygous CaSR mutations cause neonatal hyperparathyroidism (NHPT) clinically similar to NSHPT but with only moderately elevated serum calcium....

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Identifiers

PMID: 27666534
DOI: 10.1530/EJE-16-0223

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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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