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Article

A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism.

Bone - 1 Sept 2012

Ertl Diana-Alexandra, Stary Susanne, Streubel Berthold, Raimann Adalbert, Haeusler Gabriele

Abstract excerpt

CASE REPORT: A female patient with consanguineous parents presented with severe symptomatic hypocalcemia (1.62mmol/l) at the age of 4 months. Treatment with oral 1,25-(OH)2-vitamin D and calcium carbonate was started and serum calcium concentrations were stabilized at the lower end of the normal range. Subsequently she developed normally and had no evidence for additional abnormalities. Over the next 6 years of...

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Source

Identifiers

PMID: 22722080
DOI: 10.1016/j.bone.2012.06.009

Genes

PTH

Variants

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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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A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism.PMID 22722080Read ↗

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