{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T08:55:13Z","timestamp":1791363313316,"version":"4.3.1"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>\n                      Placental calcium (Ca\n                      <jats:sup>2+<\/jats:sup>\n                      ) transport is essential for foetal bone mineralisation and development, as well as for Ca\n                      <jats:sup>2+<\/jats:sup>\n                      homoeostasis. Rare mutations in transient receptor potential vanilloid (TRPV) 6 of the infant cause insufficient maternal\u2010foetal Ca\n                      <jats:sup>2+<\/jats:sup>\n                      transport through the placenta. Although there is a limited number of cases, phenotype analyses of these patients show skeletal deformities and hyperparathyroidism. In this study, we identified a case with a homozygous mutation in the TRPV6 channel that leads to the deletion of the Ca\n                      <jats:sup>2+<\/jats:sup>\n                      pore.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patient measurements<\/jats:title>\n                    <jats:p>\n                      The neonate was born with skeletal abnormalities, increased umbilical cord PTH levels (75 pmol\/L) and normal total Ca\n                      <jats:sup>2+<\/jats:sup>\n                      level (2.06\u2009mmol\/L). Skeletal abnormalities improved during the first months of life.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:sup>45<\/jats:sup>\n                      Ca\n                      <jats:sup>2+<\/jats:sup>\n                      uptake assays demonstrated loss\u2010of\u2010function, and biotinylation assays demonstrated failure of the channel to reach the cell surface.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      These findings indicate that the TRPV6\u2010p.Arg492* mutation affects maternal\u2010foetal Ca\n                      <jats:sup>2+<\/jats:sup>\n                      transport and explains the observed phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.70134","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T10:41:48Z","timestamp":1774521708000},"page":"197-204","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous\n                    <i>TRPV6<\/i>\n                    Deletion"],"prefix":"10.1111","volume":"105","author":[{"given":"Teodora","family":"Grigore","sequence":"first","affiliation":[{"name":"Department of Medical BioSciences Radboud Research Institute for Medical Innovation, Radboud University Medical Center Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quinty","family":"Leusink","sequence":"additional","affiliation":[{"name":"Department of Medical BioSciences Radboud Research Institute for Medical Innovation, Radboud University Medical Center Nijmegen 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