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Article

[Familial hypocalciuric hypercalcemia: a new mutation].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jan 2011

Ubetagoyena Arrieta M, Castaño González L, Pérez de Nanclares Leal G, Arruebarrena Lizarraga D, Imaz Murguiondo M, Areses Trapote R

Abstract excerpt

Familial hypocalciuric hypercalcemia (FHH) is a cause of hypercalcemia with autosomal dominant pattern of inheritance and high penetrance. In most of the cases it can be shown to be due to an inactivating mutation on the gene coding for the calcium-sensing receptor (CaSR). Heterozygous cases usually do not present symptoms and they are diagnosed as an incidental finding. We report three affected children with an...

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Source

Identifiers

PMID: 21185797
DOI: 10.1016/j.anpedi.2010.10.001

Genes

CASR
PTH

Variants

Provenance

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.

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