{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T12:27:49Z","timestamp":1792672069588,"version":"4.5.0"},"reference-count":32,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2002,6]]},"abstract":"<jats:p>\n                    Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the\n                    <jats:italic>p63<\/jats:italic>\n                    gene. These syndromes have various combinations of limb malformations fitting the split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia. The\n                    <jats:italic>p63<\/jats:italic>\n                    syndrome family includes the EEC syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic split hand\/foot malformation. The pattern of heterozygous mutations is distinct for each of these syndromes. The functional effects on the p63 proteins also vary between syndromes. In all of these syndromes, the mutation appears to have both dominant negative and gain of function effects rather than causing a simple loss of function.\n                  <\/jats:p>","DOI":"10.1136\/jmg.39.6.377","type":"journal-article","created":{"date-parts":[[2002,7,28]],"date-time":"2002-07-28T19:09:06Z","timestamp":1027883346000},"page":"377-381","source":"Crossref","is-referenced-by-count":151,"title":["The\n                    <i>p63<\/i>\n                    gene in EEC and other syndromes"],"prefix":"10.1136","volume":"39","author":[{"given":"H G","family":"Brunner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B C J","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"van Bokhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2002,6,1]]},"reference":[{"key":"2025101713055707000_39.6.377.1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100070104016"},{"key":"2025101713055707000_39.6.377.2","unstructured":"Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. 3d ed. New York: Oxford University Press, 1990."},{"key":"2025101713055707000_39.6.377.3","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00003"},{"key":"2025101713055707000_39.6.377.4","doi-asserted-by":"publisher","DOI":"10.1086\/323123"},{"key":"2025101713055707000_39.6.377.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"2025101713055707000_39.6.377.6","doi-asserted-by":"publisher","DOI":"10.1086\/302246"},{"key":"2025101713055707000_39.6.377.7","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/BF00496079","volume":"133","year":"1980","journal-title":"Eur J Pediatr"},{"key":"2025101713055707000_39.6.377.8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1976.tb04384.x"},{"key":"2025101713055707000_39.6.377.9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.320"},{"key":"2025101713055707000_39.6.377.10","first-page":"888","volume":"36","year":"1999","journal-title":"J Med Genet"},{"key":"2025101713055707000_39.6.377.11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450525"},{"key":"2025101713055707000_39.6.377.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.5.4.269"},{"key":"2025101713055707000_39.6.377.13","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960614)63:3<479::AID-AJMG12>3.0.CO;2-J"},{"key":"2025101713055707000_39.6.377.14","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/ajmg.1320370112","volume":"37","year":"1990","journal-title":"Am J Med Genet"},{"key":"2025101713055707000_39.6.377.15","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1111\/j.1365-2133.1994.tb06891.x","volume":"130","year":"1994","journal-title":"Br J Dermatol"},{"key":"2025101713055707000_39.6.377.16","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80268-9"},{"key":"2025101713055707000_39.6.377.17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.8.700"},{"key":"2025101713055707000_39.6.377.18","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/j.1399-0004.1976.tb01547.x","volume":"9","year":"1976","journal-title":"Clin Genet"},{"key":"2025101713055707000_39.6.377.19","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.4.316"},{"key":"2025101713055707000_39.6.377.20","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/ajmg.1320490322","volume":"49","year":"1994","journal-title":"Am J Med Genet"},{"key":"2025101713055707000_39.6.377.21","doi-asserted-by":"publisher","DOI":"10.1038\/78119"},{"key":"2025101713055707000_39.6.377.22","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.221"},{"key":"2025101713055707000_39.6.377.23","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200676"},{"key":"2025101713055707000_39.6.377.24","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.7.799"},{"key":"2025101713055707000_39.6.377.25","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"2025101713055707000_39.6.377.26","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80275-0"},{"key":"2025101713055707000_39.6.377.27","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<179::AID-AJMG21>3.0.CO;2-M"},{"key":"2025101713055707000_39.6.377.28","unstructured":"Spranger J. Pattern recognition in bone dysplasias. In: Bartsocas C, ed. Endocrine genetics and genetics of growth. New York: Alan R Liss, 1985:315-42."},{"key":"2025101713055707000_39.6.377.29","first-page":"56","volume":"153","year":"1994","journal-title":"Eur J Pediatr"},{"key":"2025101713055707000_39.6.377.30","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.2.119"},{"key":"2025101713055707000_39.6.377.31","first-page":"525","volume":"18","year":"1982","journal-title":"Birth Defects"},{"key":"2025101713055707000_39.6.377.32","doi-asserted-by":"publisher","DOI":"10.1086\/302585"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.39.6.377","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:06:06Z","timestamp":1760731566000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.39.6.377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6]]},"references-count":32,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2002,6,1]]},"published-print":{"date-parts":[[2002,6]]}},"alternative-id":["10.1136\/jmg.39.6.377"],"URL":"https:\/\/doi.org\/10.1136\/jmg.39.6.377","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6]]}}}