{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:36:10Z","timestamp":1777523770713,"version":"3.51.4"},"reference-count":28,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T00:00:00Z","timestamp":1715126400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"CAMS Innovation Fund for Medical Sciences","award":["2021-I2M-1-052"],"award-info":[{"award-number":["2021-I2M-1-052"]}]},{"name":"2019 National Major Disease Multidisciplinary Diagnosis and Treatment Cooperation Project"},{"name":"2020 Science and Technology System Reform Project","award":["1131620008"],"award-info":[{"award-number":["1131620008"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:p>\n                    The TP63 gene is essential for epithelial proliferation, differentiation, and maintenance during embryogenesis. Despite considerable clinical variability,\n                    <jats:italic toggle=\"yes\">TP63<\/jats:italic>\n                    -related symptoms are characterized by ectodermal dysplasia, distal limb malformations, and orofacial clefts. We identified a novel\n                    <jats:italic toggle=\"yes\">TP63<\/jats:italic>\n                    variant (c.619A\u2009&gt;\u2009G, p.K207E) in a seven-month-old Chinese patient with orofacial clefts and ectrodactyly but no evident signs of ectodermal dysplasia. This phenotype was rarely reported before. We summarized the presence of the three main\n                    <jats:italic toggle=\"yes\">TP63<\/jats:italic>\n                    -related manifestations in the literature and noted different distributions of CP- and CL\/P-related variants regarding p63 structural domains.\n                  <\/jats:p>","DOI":"10.1177\/10556656241241132","type":"journal-article","created":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T02:49:20Z","timestamp":1715222960000},"page":"1263-1267","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a Novel TP63 Variant in a Chinese Patient with Orofacial Clefts and Ectrodactyly: Case Report and Literature Review"],"prefix":"10.1177","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-7427-7560","authenticated-orcid":false,"given":"Leheng","family":"Jiang","sequence":"first","affiliation":[{"name":"Chinese Academy of Medical Sciences and Peking Union Medical College"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chanyuan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Chinese Academy of Medical Sciences and Peking Union Medical College"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Song","sequence":"additional","affiliation":[{"name":"Chinese Academy of Medical Sciences and Peking Union Medical College"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongqian","family":"Wang","sequence":"additional","affiliation":[{"name":"Chinese Academy of Medical Sciences and Peking Union Medical College"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuo","family":"Si","sequence":"additional","affiliation":[{"name":"Chinese Academy of Medical Sciences and Peking Union Medical College"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haidong","family":"Li","sequence":"additional","affiliation":[{"name":"Chinese Academy of Medical Sciences and Peking Union Medical College"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4657-3723","authenticated-orcid":false,"given":"Ningbei","family":"Yin","sequence":"additional","affiliation":[{"name":"Chinese Academy of Medical Sciences and Peking Union Medical College"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,5,8]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(09)60695-4"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.100.2.180"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1186\/1472-6831-5-4"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31447"},{"issue":"2","key":"e_1_3_3_6_2","first-page":"61","article-title":"Heterogeneity of oral clefts in relation to associated congenital anomalies","volume":"49","author":"Matulevi\u010dien\u0117 A","year":"2013","unstructured":"Matulevi\u010dien\u0117 A, Preik\u0161aitien\u0117 E, Linkevi\u010dien\u0117 L, et al. Heterogeneity of oral clefts in relation to associated congenital anomalies. 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