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Article

Phenotypic variation in a large family with autosomal dominant hypocalcaemia.

Hormone research in paediatrics - 1 Jan 2010

Sørheim J I, Husebye E S, Nedrebø B G, Svarstad E, Lind J, Boman H, Løvås K

Abstract excerpt

BACKGROUND/AIMS: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium- sensing receptor (CASR). We aimed to describe the phenotypic variation within a large family with ADH, especially kidney and cerebral basal ganglia calcifications. METHODS: Fifteen related su...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20501971
DOI: 10.1159/000303188

Genes

CASR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20501971-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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