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Article

Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.

The Journal of clinical endocrinology and metabolism - 18 Jan 2024

Cuny Thomas, Romanet Pauline, Goldsworthy Michelle, Guérin Carole, Wilkin Marie, Roche Philippe, Sebag Frédéric, van Summeren Lynn E, Stevenson Mark, Howles Sarah A, Deharo Jean-Claude, Thakker Rajesh V, Taïeb David

Abstract excerpt

CONTEXT: Familial hypocalciuric hypercalcemia type 1 (FHH-1) defines an autosomal dominant disease, related to mutations in the CASR gene, with mild hypercalcemia in most cases. Cases of FHH-1 with a short QT interval have not been reported to date. OBJECTIVE: Three family members presented with FHH-1 and short QT interval (<360 ms), a condition that could lead to cardiac arrhythmias, and the effects of...

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Identifiers

PMID: 37602721
DOI: 10.1210/clinem/dgad494
PMCID: PMC7615553

Genes

CASR

Variants

Provenance

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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