{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T14:58:15Z","timestamp":1772895495646,"version":"3.50.1"},"reference-count":36,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2002,2]]},"DOI":"10.1136\/jmg.39.2.136","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:29:57Z","timestamp":1027751397000},"page":"136-141","source":"Crossref","is-referenced-by-count":14,"title":["Acrofacial dysostosis in a patient with the <i>TSC2-PKD1<\/i> contiguous gene syndrome"],"prefix":"10.1136","volume":"39","author":[{"given":"J G","family":"Dauwerse","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Bouman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A J","family":"van Essen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A H","family":"van der Hout","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Kolsters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M H","family":"Breuning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J M","family":"Peters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2002,2,1]]},"reference":[{"key":"2025101721481629000_39.2.136.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470517"},{"key":"2025101721481629000_39.2.136.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460407"},{"key":"2025101721481629000_39.2.136.3","unstructured":"Gomez MR. Tuberous sclerosis. 2nd ed. New York: Raven Press, 1988."},{"key":"2025101721481629000_39.2.136.4","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0273"},{"key":"2025101721481629000_39.2.136.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)03495-3"},{"key":"2025101721481629000_39.2.136.6","doi-asserted-by":"publisher","DOI":"10.1086\/514888"},{"key":"2025101721481629000_39.2.136.7","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291428"},{"key":"2025101721481629000_39.2.136.8","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1182\/blood.V79.5.1299.1299","volume":"79","year":"1992","journal-title":"Blood"},{"key":"2025101721481629000_39.2.136.9","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4699"},{"key":"2025101721481629000_39.2.136.10","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90672-D"},{"key":"2025101721481629000_39.2.136.11","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90137-6"},{"key":"2025101721481629000_39.2.136.12","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90016-L"},{"key":"2025101721481629000_39.2.136.13","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.10.3108"},{"key":"2025101721481629000_39.2.136.14","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.10.603"},{"key":"2025101721481629000_39.2.136.15","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1159\/000132911","volume":"53","year":"1990","journal-title":"Cytogenet Cell Genet"},{"key":"2025101721481629000_39.2.136.16","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6.6.515"},{"key":"2025101721481629000_39.2.136.17","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.4500"},{"key":"2025101721481629000_39.2.136.18","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(95)00571-4"},{"key":"2025101721481629000_39.2.136.19","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1480"},{"key":"2025101721481629000_39.2.136.20","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4748"},{"key":"2025101721481629000_39.2.136.21","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(98)00281-9"},{"key":"2025101721481629000_39.2.136.22","doi-asserted-by":"crossref","first-page":"4985","DOI":"10.1002\/j.1460-2075.1993.tb06192.x","volume":"12","year":"1993","journal-title":"EMBO J"},{"key":"2025101721481629000_39.2.136.23","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1995.1277"},{"key":"2025101721481629000_39.2.136.24","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1998.2042"},{"key":"2025101721481629000_39.2.136.25","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(98)00485-5"},{"key":"2025101721481629000_39.2.136.26","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M001410200"},{"key":"2025101721481629000_39.2.136.27","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6.6.525"},{"key":"2025101721481629000_39.2.136.28","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80380-5"},{"key":"2025101721481629000_39.2.136.29","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.9950"},{"key":"2025101721481629000_39.2.136.30","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0538"},{"key":"2025101721481629000_39.2.136.31","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0596"},{"key":"2025101721481629000_39.2.136.32","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900796"},{"key":"2025101721481629000_39.2.136.33","first-page":"1900","volume":"12","year":"1997","journal-title":"Contrib Nephrol"},{"key":"2025101721481629000_39.2.136.34","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.4.287"},{"key":"2025101721481629000_39.2.136.35","doi-asserted-by":"publisher","DOI":"10.1038\/ng1294-328"},{"key":"2025101721481629000_39.2.136.36","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/12.11.2284"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.39.2.136","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:48:25Z","timestamp":1760762905000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.39.2.136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2]]},"references-count":36,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2002,2,1]]},"published-print":{"date-parts":[[2002,2]]}},"alternative-id":["10.1136\/jmg.39.2.136"],"URL":"https:\/\/doi.org\/10.1136\/jmg.39.2.136","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,2]]}}}