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Article

Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene.

The Journal of clinical endocrinology and metabolism - 1 Apr 2020

Marx Stephen J, Sinaii Ninet

Abstract excerpt

CONTEXT: Neonatal severe hyperparathyroidism (NSHPT) is rare and potentially lethal. It is usually from homozygous or heterozygous germline-inactivating CASR variant(s). NSHPT shows a puzzling range of serum calcium and parathyroid hormone (PTH) levels. Optimal therapy is unclear. EVIDENCE ACQUISITION: We categorized genotype/phenotype pairings related to CASRs. For the 2 pairings in NSHPT, each of 57 cases of...

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Identifiers

PMID: 31778168
DOI: 10.1210/clinem/dgz233
PMCID: PMC7111126

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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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