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Article

Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.

European journal of pediatrics - 1 May 2009

Obermannova Barbora, Banghova Karolina, Sumník Zdenek, Dvorakova Hana M, Betka Jan, Fencl Filip, Kolouskova Stanislava, Cinek Ondrej, Lebl Jan

Abstract excerpt

We present a male patient with neonatal severe primary hyperparathyroidism, whose manifestation was exceptionally serious for the heterozygous inactivating mutation he carried in the CASR gene. The patient presented soon after birth with respiratory distress requiring long-term mechanical ventilation, bone and chest deformities, feeding problems, and hypotonia. He had hypercalcaemia, hypophosphataemia, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Calcium-Sensing

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Source

Identifiers

PMID: 18751724
DOI: 10.1007/s00431-008-0794-y

Genes

CASR

Variants

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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Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.PMID 18751724Read ↗

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Unusual case of neonatal hypercalcemia.Semantic proximity Read ↗

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).Semantic proximity Read ↗

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