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Article

A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2005

Burren C P, Curley A, Christie P, Rodda C P, Thakker R V

Abstract excerpt

Autosomal dominant hypocalcaemia with hypercalciuria (ADHH) is an intriguing syndrome, in which activating mutations of the calcium sensing receptor (CaSR) have recently been recognised. We describe a kindred with seven affected individuals across three generations, including patients affected in the first decade of life. Age at diagnosis varied from birth to 50 years. Affected members had hypocalcaemia...

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Source

Identifiers

PMID: 16128246
DOI: 10.1515/jpem.2005.18.7.689

Genes

PTH

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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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