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Article

Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion.

Clinical endocrinology - 1 Aug 2026

Grigore Teodora, Leusink Quinty, Latta Femke, van der Eerden Bram, de Laat Paul, van der Kaay Danielle, Hoenderop Joost

Abstract excerpt

CONTEXT: Placental calcium (Ca2+) transport is essential for foetal bone mineralisation and development, as well as for Ca2+ homoeostasis. Rare mutations in transient receptor potential vanilloid (TRPV) 6 of the infant cause insufficient maternal-foetal Ca2+ transport through the placenta. Although there is a limited number of cases, phenotype analyses of these patients show skeletal deformities and...

Topics

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Bone Diseases, Metabolic
Calcium
Calcium Channels
Homozygote
Hyperparathyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

TRPV Cation Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 41885138
DOI: 10.1111/cen.70134
PMCID: PMC13326983

Genes

TRPV6
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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