{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T02:36:47Z","timestamp":1777948607916,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T00:00:00Z","timestamp":1768694400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T00:00:00Z","timestamp":1768694400000},"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":["The Journal of Dermatology"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Wiedemann\u2010Rautenstrauch syndrome is an extremely rare autosomal recessive progeroid disorder closely linked to mutations in POLR3A. Here, we report a case of a 4\u2010year\u2010old female patient carrying a novel compound\u2010heterozygous variant in POLR3A. In addition to the classic Wiedemann\u2010Rautenstrauch syndrome features\u2014progressive diffuse alopecia, growth retardation, and abnormal white matter development\u2014the patient presented with severe anemia and skin laxity, phenotypes not previously described in Wiedemann\u2010Rautenstrauch syndrome. RT\u2010qPCR analysis of skin tissue demonstrated a significant downregulation of\n                    <jats:italic>POLR3A<\/jats:italic>\n                    mRNA expression (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.01). To our knowledge, this is the first report implicating an intronic POLR3A variant in Wiedemann\u2010Rautenstrauch syndrome in the Chinese population, expanding both the mutational and phenotypic spectra of the disorder and underscoring its clinical heterogeneity.\n                  <\/jats:p>","DOI":"10.1111\/1346-8138.70119","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T04:15:49Z","timestamp":1768796149000},"page":"357-361","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel\n                    <scp>POLR3A<\/scp>\n                    Gene Mutation Results in Wiedemann\u2010Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis"],"prefix":"10.1111","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-0513-1847","authenticated-orcid":false,"given":"Weiyi","family":"Xiang","sequence":"first","affiliation":[{"name":"Department of Dermatology West China Hospital, Sichuan University  Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology Frontiers Science Center for Disease\u2010Related Molecular Network, West China Hospital, Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1936-7718","authenticated-orcid":false,"given":"Hongjie","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital, Sichuan University  Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology Frontiers Science Center for Disease\u2010Related Molecular Network, West China Hospital, Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9514-0740","authenticated-orcid":false,"given":"Deyu","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital, Sichuan University  Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology Frontiers Science Center for Disease\u2010Related Molecular Network, West China Hospital, Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3663-0155","authenticated-orcid":false,"given":"Xueyu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital, Sichuan University  Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology Frontiers Science Center for Disease\u2010Related Molecular Network, West China Hospital, Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5109-6055","authenticated-orcid":false,"given":"Xian","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital, Sichuan University  Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology Frontiers Science Center for Disease\u2010Related Molecular Network, West China Hospital, Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.010"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052\u2010021\u201001112\u20106"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010019\u20100539\u20106"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38246"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102018\u2010105528"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mad.2020.111360"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010biochem\u2010062917\u2010012624"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2021.696438"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s42003\u2010023\u201005513\u20107"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000001002"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048\u2010019\u201000602\u20104"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35336"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes15020180"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.70119","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.70119","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.70119","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:32:13Z","timestamp":1777804333000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.70119"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,18]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1111\/1346-8138.70119"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.70119","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,18]]},"assertion":[{"value":"2025-09-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}