{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T08:12:07Z","timestamp":1783930327416,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,5,2]],"date-time":"2019-05-02T00:00:00Z","timestamp":1556755200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,5,2]],"date-time":"2019-05-02T00:00:00Z","timestamp":1556755200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670949"],"award-info":[{"award-number":["81670949"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Ectrodactyly\u2010Ectodermal dysplasia\u2010Cleft lip\/palate (EEC) syndrome and Ankyloblepharon\u2010Ectodermal defects\u2010Cleft lip\/palate (AEC) syndrome belong to p63 syndromes, a group of rare disorders exhibiting a wide variety of clinical manifestations.\n                      <jats:italic>TP63<\/jats:italic>\n                      mutations have been reported to be associated with both EEC and AEC.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Analysis of whole exome sequencing (WES) from patients with EEC or AEC syndrome and Sanger sequencing from family members.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We confirmed that three Chinese pedigrees affected with EEC or AEC harboring a distinct\n                      <jats:italic>TP63<\/jats:italic>\n                      mutation, and described novel clinical phenotypes of EEC and AEC, including the presence of cubitus valgus deformity and taurodontism, which were discordant to their classical disease features. We also analyzed the genotype\u2013phenotype correlation based on our findings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We reported that the cubitus valgus deformity in patients with EEC and severe taurodontism in a patient with AEC had not been mentioned previously. Our study expands the phenotypic spectrum of EEC and AEC syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.704","type":"journal-article","created":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T02:15:40Z","timestamp":1556849740000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Tooth defects of EEC and AEC syndrome caused by heterozygous\n                    <i>TP63<\/i>\n                    mutations in three Chinese families and genotype\u2010phenotype correlation analyses of\n                    <i>TP63<\/i>\n                    \u2010related disorders"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9379-9285","authenticated-orcid":false,"given":"Jinglei","family":"Zheng","sequence":"first","affiliation":[{"name":"Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haochen","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Zhan","sequence":"additional","affiliation":[{"name":"National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology The 3rd Dental Clinic, Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sing\u2010Wai","family":"Wong","sequence":"additional","affiliation":[{"name":"Oral and Craniofacial Biomedicine Curriculum, School of Dentistry University of North Carolina at Chapel Hill Chapel Hill North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Cai","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailan","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9625-3384","authenticated-orcid":false,"given":"Dong","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,2]]},"reference":[{"issue":"2","key":"e_1_2_8_2_1","first-page":"61","article-title":"ADULT syndrome: Dental features of a very rare condition","volume":"31","author":"Azzi L.","year":"2017","journal-title":"Journal of Biological Regulators and Homeostatic Agents"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.24622"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1976.tb04384.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19960614)63:3<472:aid-ajmg11>3.0.co;2-j"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.12.001"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.5.4.269"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32793"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/341450"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/323123"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302246"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1097-2765(00)80275-0"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2018.8838"}],"container-title":["Molecular Genetics &amp; 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