{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:22:39Z","timestamp":1787311359533,"version":"build-2736575974"},"reference-count":6,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T00:00:00Z","timestamp":1595462400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    FILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) is a rare autosomal recessive disorder caused by pathogenic alterations in the\n                    <jats:italic>POLE<\/jats:italic>\n                    gene leading to multisystemic manifestations, including poorly characterized skin findings. We report a child with a homozygous variant, c.100C\u00a0&gt;\u00a0T (p.Arg34Cys), in\n                    <jats:italic>POLE<\/jats:italic>\n                    and features consistent with poikiloderma, expanding the dermatologic signs associated with this rare disorder. Additionally, we review reported cases of FILS syndrome, discuss possible pathomechanisms for our patient's presentation, and consider implications for management.\n                  <\/jats:p>","DOI":"10.1111\/pde.14274","type":"journal-article","created":{"date-parts":[[2020,7,24]],"date-time":"2020-07-24T02:59:31Z","timestamp":1595559571000},"page":"915-917","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Filling in the gaps on FILS syndrome: A case report and literature review"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3801-3136","authenticated-orcid":false,"given":"Chelsea","family":"Eason","sequence":"first","affiliation":[{"name":"Department of Dermatology and Dermatologic Surgery Medical University of South Carolina  Charleston SC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Aleisa","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Dermatologic Surgery Medical University of South Carolina  Charleston SC USA"},{"name":"Department of Dermatology King Saud Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie R.","family":"Jones","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood SC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eloise J.","family":"Prijoles","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood SC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"Wine Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Dermatologic Surgery Medical University of South Carolina  Charleston SC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20121303"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2345"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/iub.1276"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0177-y"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.024"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2018.04.008"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.14274","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14274","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14274","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14274","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T08:21:16Z","timestamp":1693902076000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14274"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,23]]},"references-count":6,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1111\/pde.14274"],"URL":"https:\/\/doi.org\/10.1111\/pde.14274","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,23]]},"assertion":[{"value":"2020-07-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}