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Article

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.

Bone - 1 Jul 2014

Atay Zeynep, Bereket Abdullah, Haliloglu Belma, Abali Saygin, Ozdogan Tutku, Altuncu Emel, Canaff Lucie, Vilaça Tatiane, Wong Betty Y L, Cole David E C, Hendy Geoffrey N, Turan Serap

Abstract excerpt

BACKGROUND: NSHPT is a life-threatening disorder caused by homozygous inactivating calcium-sensing receptor (CASR) mutations. In some cases, the CaSR allosteric activator, cinacalcet, may reduce serum PTH and calcium levels, but surgery is the treatment of choice. OBJECTIVE: To describe a case of...

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Source

Identifiers

PMID: 24735972
DOI: 10.1016/j.bone.2014.04.010

Genes

CASR
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24735972-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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