Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous <i>TRPV6</i> Deletion
These findings indicate that the TRPV6-p.Arg492* mutation affects maternal-foetal Ca<sup>2+</sup> transport and explains the observed phenotype.
Authors
- Paul de Laat (ORCID: https://orcid.org/0000-0003-2541-3090)
- B. C. J. Van der Eerden
- Femke Latta
- Quinty Leusink (ORCID: https://orcid.org/0009-0006-7885-4139)
- Joost Hoenderop
- Danielle van der Kaay
- Teodora Grigore
Institutions
- Radboud University Nijmegen (NL)
- Erasmus MC (NL)
- Radboud University Medical Center (NL)
- Sint Franciscus Gasthuis (NL)
- Radboud Institute for Molecular Life Sciences (NL)
Publication Details
- Journal
- Clinical Endocrinology
- Published
- 2026-03-26
- DOI
- https://doi.org/10.1111/cen.70134
- Primary Topic
- Ion Channels and Receptors
- Type
- article
- Field-Weighted Citation Impact
- 0.00