{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T16:44:33Z","timestamp":1770741873927,"version":"3.49.0"},"reference-count":45,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2003,12]]},"DOI":"10.1136\/jmg.40.12.e133","type":"journal-article","created":{"date-parts":[[2003,12,18]],"date-time":"2003-12-18T18:38:05Z","timestamp":1071772685000},"page":"e133-e133","source":"Crossref","is-referenced-by-count":37,"title":["Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene"],"prefix":"10.1136","volume":"40","author":[{"given":"I","family":"Dianzani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Garelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Gustavsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Carando","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Gustafsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Dahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Anner\u00e9n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2003,12,18]]},"reference":[{"key":"2025101713530685000_40.12.e133.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80275-0"},{"key":"2025101713530685000_40.12.e133.2","first-page":"199","volume":"1","year":"2000","journal-title":"Nat Rev"},{"key":"2025101713530685000_40.12.e133.3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cdd.4400631"},{"key":"2025101713530685000_40.12.e133.4","first-page":"337","volume":"12","year":"2001","journal-title":"Cell Growth and Differentiation"},{"key":"2025101713530685000_40.12.e133.5","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202955"},{"key":"2025101713530685000_40.12.e133.6","doi-asserted-by":"publisher","DOI":"10.1038\/19531"},{"key":"2025101713530685000_40.12.e133.7","first-page":"M93","volume":"1470","year":"2000","journal-title":"Biochem Biophys Acta"},{"key":"2025101713530685000_40.12.e133.8","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1242\/jcs.113.10.1661","volume":"113","year":"2000","journal-title":"J Cell Sc"},{"key":"2025101713530685000_40.12.e133.9","doi-asserted-by":"publisher","DOI":"10.1038\/38298"},{"key":"2025101713530685000_40.12.e133.10","doi-asserted-by":"publisher","DOI":"10.1084\/jem.188.9.1763"},{"key":"2025101713530685000_40.12.e133.11","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cdd.4400521"},{"key":"2025101713530685000_40.12.e133.12","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202817"},{"key":"2025101713530685000_40.12.e133.13","doi-asserted-by":"publisher","DOI":"10.1038\/21697"},{"key":"2025101713530685000_40.12.e133.14","doi-asserted-by":"publisher","DOI":"10.1086\/341450"},{"key":"2025101713530685000_40.12.e133.15","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/18.16.4438"},{"key":"2025101713530685000_40.12.e133.16","doi-asserted-by":"publisher","DOI":"10.1110\/ps.8.8.1708"},{"key":"2025101713530685000_40.12.e133.17","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.24.8659-8668.2002"},{"key":"2025101713530685000_40.12.e133.18","first-page":"494","volume":"8","year":"2002","journal-title":"Clin Cancer Res"},{"key":"2025101713530685000_40.12.e133.19","doi-asserted-by":"publisher","DOI":"10.1023\/A:1009663809458"},{"key":"2025101713530685000_40.12.e133.20","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"2025101713530685000_40.12.e133.21","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"2025101713530685000_40.12.e133.22","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2000.00683.x"},{"key":"2025101713530685000_40.12.e133.23","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.221"},{"key":"2025101713530685000_40.12.e133.24","doi-asserted-by":"publisher","DOI":"10.1086\/323123"},{"key":"2025101713530685000_40.12.e133.25","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600411.x"},{"key":"2025101713530685000_40.12.e133.26","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200676"},{"key":"2025101713530685000_40.12.e133.27","first-page":"481","volume":"69","year":"2002","journal-title":"Am J Hum Genet"},{"key":"2025101713530685000_40.12.e133.28","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.377"},{"key":"2025101713530685000_40.12.e133.29","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.1399-0004.1982.tb01375.x","volume":"21","year":"1982","journal-title":"Clin Genet"},{"key":"2025101713530685000_40.12.e133.30","first-page":"149","volume":"24","year":"1988","journal-title":"Birth Defects Orig Art Ser"},{"key":"2025101713530685000_40.12.e133.31","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1111\/j.1525-1470.1997.tb00224.x","volume":"14","year":"1997","journal-title":"Pediatr Dermatol"},{"key":"2025101713530685000_40.12.e133.32","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1080\/01913120117514","volume":"25","year":"2001","journal-title":"Ultrastruct Pathol"},{"key":"2025101713530685000_40.12.e133.33","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<343::AID-AJMG3>3.0.CO;2-K"},{"key":"2025101713530685000_40.12.e133.34","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10165"},{"key":"2025101713530685000_40.12.e133.35","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.5.4.269"},{"key":"2025101713530685000_40.12.e133.36","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00003"},{"key":"2025101713530685000_40.12.e133.37","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80273-7"},{"key":"2025101713530685000_40.12.e133.38","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.165"},{"key":"2025101713530685000_40.12.e133.39","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1111\/j.1399-0004.1985.tb00372.x","volume":"28","year":"1985","journal-title":"Clin Genet"},{"key":"2025101713530685000_40.12.e133.40","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960614)63:3<479::AID-AJMG12>3.0.CO;2-J"},{"key":"2025101713530685000_40.12.e133.41","doi-asserted-by":"crossref","unstructured":"Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. 4th edn. Oxford, UK: Oxford University Press, 2001:883\u201386.","DOI":"10.1093\/oso\/9780195118612.001.0001"},{"key":"2025101713530685000_40.12.e133.42","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/j.1399-0004.1991.tb03093.x","volume":"40","year":"1991","journal-title":"Clin Genet"},{"key":"2025101713530685000_40.12.e133.43","first-page":"779","volume":"72","year":"2003","journal-title":"Am J Hum Genet"},{"key":"2025101713530685000_40.12.e133.44","first-page":"5902","volume":"59","year":"1999","journal-title":"Cancer Res"},{"key":"2025101713530685000_40.12.e133.45","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.559"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.40.12.e133","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:53:15Z","timestamp":1760734395000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.40.12.e133"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,12]]},"references-count":45,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2003,12,18]]},"published-print":{"date-parts":[[2003,12]]}},"alternative-id":["10.1136\/jmg.40.12.e133"],"URL":"https:\/\/doi.org\/10.1136\/jmg.40.12.e133","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,12]]}}}