{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T20:01:11Z","timestamp":1791489671745,"version":"4.3.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T00:00:00Z","timestamp":1773619200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:p>\n                    Focal dermal hypoplasia is an X-linked dominant genetic disorder predominantly affecting females, caused by loss-of-function variants in the\n                    <jats:italic toggle=\"yes\">PORCN<\/jats:italic>\n                    gene, characterized by ectodermal, skeletal, craniofacial and ocular structural abnormalities. We report three cases with\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    novel variants, and performed a comprehensive review of the clinical features of this disorder focusing on Asian patients, and identified significant differences compared with previous literature focusing on Caucasian patients. Cleft lip and palate is a frequently reported feature in Asian patients, but not in Caucasians. This improves the understanding of this rare disease in particular ethnic-specific differences.\n                  <\/jats:p>","DOI":"10.1177\/10556656261431892","type":"journal-article","created":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T08:08:39Z","timestamp":1773648519000},"page":"4000-4007","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review"],"prefix":"10.1177","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8894-4898","authenticated-orcid":false,"given":"Joshua C.K.","family":"Chan","sequence":"first","affiliation":[{"name":"Hong Kong Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3626-4485","authenticated-orcid":false,"given":"Phoebe K.W.","family":"Wu","sequence":"additional","affiliation":[{"name":"Hong Kong Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2128-1903","authenticated-orcid":false,"given":"Wing Chung","family":"Yiu","sequence":"additional","affiliation":[{"name":"Hong Kong Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4239-5752","authenticated-orcid":false,"given":"Stephanie K.L.","family":"Ho","sequence":"additional","affiliation":[{"name":"Hong Kong Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4066-4066","authenticated-orcid":false,"given":"Ho-Ming","family":"Luk","sequence":"additional","affiliation":[{"name":"Hong Kong Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,3,16]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng2052"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng2057"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12083"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31472"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31473"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61938"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31478"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tripleo.2011.03.012"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37974"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068403"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31470"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61051"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1399"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62649"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0473-7"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.00975.x"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12457"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656261431892","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10556656261431892","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656261431892","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T19:46:57Z","timestamp":1791488817000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10556656261431892"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,16]]},"references-count":18,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2026,11]]}},"alternative-id":["10.1177\/10556656261431892"],"URL":"https:\/\/doi.org\/10.1177\/10556656261431892","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,16]]}}}