{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:38:42Z","timestamp":1792658322867,"version":"4.5.0"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T00:00:00Z","timestamp":1697587200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T00:00:00Z","timestamp":1697587200000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>PLAGL1<\/jats:italic>\n                    is one of a group of imprinted genes, whose altered expression causes imprinting disorders impacting growth, development, metabolism, and behavior.\n                    <jats:italic>PLAGL1<\/jats:italic>\n                    over\u2010expression causes transient neonatal diabetes mellitus (TNDM type 1) and, based on murine models, under\u2010expression would be expected to cause growth restriction. However, only some reported individuals with upd(6)mat have growth restriction, giving rise to uncertainty about the role of\n                    <jats:italic>PLAGL1<\/jats:italic>\n                    in human growth. Here we report three individuals investigated for growth restriction, two with upd(6)mat and one with a mosaic deletion of the paternally\u2010inherited allele of\n                    <jats:italic>PLAGL1<\/jats:italic>\n                    . These cases add to evidence of its involvement in pre\u2010 and early post\u2010natal human growth.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63448","type":"journal-article","created":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:00:22Z","timestamp":1697608822000},"page":"383-388","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A case of mosaic deletion of paternally\u2010inherited\n                    <scp>\n                      <i>PLAGL1<\/i>\n                    <\/scp>\n                    and two cases of upd(6)mat add to evidence for\n                    <scp>\n                      <i>PLAGL1<\/i>\n                    <\/scp>\n                    under\u2010expression as a cause of growth restriction"],"prefix":"10.1002","volume":"194","author":[{"given":"Ahmed S. N.","family":"Alhendi","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Southampton  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Gazdagh","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Southampton  UK"},{"name":"University Hospital Southampton  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek","family":"Lim","sequence":"additional","affiliation":[{"name":"Birmingham Women's and Children's Foundation Trust  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic","family":"McMullan","sequence":"additional","affiliation":[{"name":"Birmingham Women's and Children's Foundation Trust  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Wright","sequence":"additional","affiliation":[{"name":"Newcastle Hospitals NHS Foundation Trust  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. Karen","family":"Temple","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Southampton  UK"},{"name":"University Hospital Southampton  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin H.","family":"Davies","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Southampton  UK"},{"name":"University Hospital Southampton  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3088-4401","authenticated-orcid":false,"given":"Deborah J. 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