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Article

Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.

Acta paediatrica (Oslo, Norway : 1992) - 1 Nov 2014

Thim Signe B, Birkebaek Niels H, Nissen Peter H, Høst Christian

Abstract excerpt

UNLABELLED: Autosomal dominant hypocalcaemia (ADH) is caused by activating variants in the calcium-sensing receptor (CASR) gene, but detailed information on the paediatric phenotype is limited. The current paper presents a case of severe ADH and systematically reviews the literature on ADH in children. CONCLUSION: We found that the severity of clinical neurological symptoms was inversely related to serum calcium...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Calcium-Sensing

Source

Identifiers

PMID: 25039540
DOI: 10.1111/apa.12743

Genes

CASR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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