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Article

Neonatal severe hyperparathyroidism: further clinical and molecular delineation.

European journal of pediatrics - 1 May 2011

Al-Khalaf Fawziya A, Ismail Adel, Soliman Ashraf T, Cole David E C, Ben-Omran Tawfeg

Abstract excerpt

UNLABELLED: We report a newborn female from a consanguineous Sri Lankan family with clinical and biochemical features of neonatal severe hyperparathyroidism (NSHPT). Mutation screening of the calcium-sensing receptor (CASR) gene in genomic DNA revealed a homozygous truncating mutation (c.679C>T, predicting p.R227X), confirming the clinical diagnosis. Other mutations at the R227 position are reported to cause...

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Source

Identifiers

PMID: 20972686
DOI: 10.1007/s00431-010-1335-z

Genes

CASR

Variants

Provenance

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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