Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria.

doi:10.1210/jc.2013-2571

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Article

Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria.

The Journal of clinical endocrinology and metabolism - 1 Dec 2013

Fujisawa Yasuko, Yamaguchi Rie, Satake Eiichirou, Ohtaka Konosuke, Nakanishi Toshiki, Ozono Keiichi, Ogata Tsutomu

Abstract excerpt

CONTEXT: Although AP2S1 has recently been shown to be a causative gene for familial hypocalciuric hypercalcemia type 3 (FHH3), knowledge about FHH3 remains poor. OBJECTIVE: Our objective was to report AP2S1 mutation and effects of low calcium formula in a patient with hypercalcemia and hypercalciuria. PATIENT: This Japanese female infant was found to have hypercalcemia by a routine laboratory test for poor weight...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24081735
DOI: 10.1210/jc.2013-2571

Genes

PTH
CASR
GNA11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.