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Article

Maternal activating mutation of the calcium-sensing receptor: implications for calcium metabolism in the neonate.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2004

Pagan Yanira L, Hirschhorn Joel, Yang Bing, D'Souza-Li Lilia, Majzoub Joseph A, Hendy Geoffrey N

Abstract excerpt

Two infants were studied born of a mother with autosomal dominant hypocalcemia who is heterozygous for an activating mutation in the calcium-sensing receptor gene. Both infants had serum calcium levels in the low-normal range and parathyroid hormone levels in the high-normal range and were healthy. The mother's hypocalcemia had been treated with calcium carbonate and calcitriol and she has nephrocalcinosis and...

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Source

Identifiers

PMID: 15198301
DOI: 10.1515/jpem.2004.17.4.673

Provenance

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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