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Article

A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2014

Diaz-Thomas Alicia, Cannon John, Iyer Pallavi, Al-Maawali Almundher, Fazalullah Mohammed, Diamond Frank, Mueller O Thomas, Root Allen W, Alyaarubi Saif

Abstract excerpt

BACKGROUND: Neonatal severe primary hyperparathyroidism (NSHPT, MIM 239200) is most often an isolated disorder that is due to biallelic inactivating mutations in the CASR, the gene encoding the calcium sensing receptor; NSHPT is inherited from parents with familial hypocalciuric hypercalcemia, each of whom has one mutated CASR allele. OBJECTIVES: To report clinical and genetic findings in a brother and sister...

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Source

Identifiers

PMID: 24854525
DOI: 10.1515/jpem-2013-0343

Genes

CASR

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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