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Article

Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor.

Molecular and cellular endocrinology - 5 Jan 2017

Maruca Katia, Brambilla Ilaria, Mingione Alessandra, Bassi Lorenzo, Capelli Silvia, Brasacchio Caterina, Soldati Laura, Cisternino Mariangela, Mora Stefano

Abstract excerpt

Autosomal Dominant Hypocalcemia (ADH) is an endocrine disorder due to activating mutations of the calcium-sensing receptor (CASR) gene. We report on a young boy who presented low serum calcium with hypercalciuria, hyperphosphatemia and low serum concentration of parathyroid hormone, not accompanied by classic clinical signs of hypocalcemia. Treatment with calcitriol and calcium did not normalize serum calcium and...

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Source

Identifiers

PMID: 27561204
DOI: 10.1016/j.mce.2016.08.032

Genes

CASR

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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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