{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T15:37:02Z","timestamp":1757777822520},"reference-count":17,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,7,3]],"date-time":"2013-07-03T00:00:00Z","timestamp":1372809600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>We report on a family affected by Camurati\u2013Engelmann disease, characterized by radiological signs limited to the tibia, and associated with overweight or obesity, which is not a known feature of this disorder. The affected patients were heterozygous for a c.466C\u2009&gt;\u2009T mutation (which predicts p.Arg156Cys) in the latency associated protein (LAP)\u2010coding domain of the <jats:italic>TGFB1<\/jats:italic> gene. This mutation had previously been reported once in another family with a similar, atypical phenotype, which suggests a possible phenotype\/genotype relationship. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36022","type":"journal-article","created":{"date-parts":[[2013,7,3]],"date-time":"2013-07-03T22:58:54Z","timestamp":1372892334000},"page":"2074-2077","source":"Crossref","is-referenced-by-count":14,"title":["Camurati\u2013engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the <i>TGFB1<\/i> gene"],"prefix":"10.1002","volume":"161","author":[{"given":"Corinne","family":"Collet","sequence":"first","affiliation":[{"name":"UF de G\u00e9n\u00e9tique Mol\u00e9culaire, Service de Biochimie et de Biologie Mol\u00e9culaire, p\u00f4le B2P, GH Saint\u2010Louis Lariboisi\u00e8re Fernand Widal Inserm U606 Paris France"},{"name":"Service de Rhumatologie, GH Saint\u2010Louis Lariboisi\u00e8re Fernand Widal, Paris Diderot Universit\u00e9\/Inserm U606 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Louis","family":"Laplanche","sequence":"additional","affiliation":[{"name":"UF de G\u00e9n\u00e9tique Mol\u00e9culaire, Service de Biochimie et de Biologie Mol\u00e9culaire, p\u00f4le B2P, GH Saint\u2010Louis Lariboisi\u00e8re Fernand Widal Inserm U606 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Christine","family":"de Vernejoul","sequence":"additional","affiliation":[{"name":"Service de Rhumatologie, GH Saint\u2010Louis Lariboisi\u00e8re Fernand Widal, Paris Diderot Universit\u00e9\/Inserm U606 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,7,3]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"662","article-title":"Di uno raro caso di osteite simmetrica ereditaria degli arti inferiori","volume":"6","author":"Camurati M","year":"1922","journal-title":"Chir Organi Mov"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M212259200"},{"key":"e_1_2_5_4_1","first-page":"1101","article-title":"Ein Fall von Osteopathia hyperostotica (sclerotisans) multiplex infantilis","volume":"39","author":"Engelmann G","year":"1929","journal-title":"Fortschr Geb Roentgenstr Nukl"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/81563"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M208857200"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033522"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<153::AID-AJMG15>3.0.CO;2-U"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016924909138232"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2008.04.013"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C000859200"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.167.3.8751682"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00432-X"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-005-1896-2"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.1.73"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.110288"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2010-0018"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-002-0552-6"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36022","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36022","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:00:29Z","timestamp":1696633229000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36022"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,3]]},"references-count":17,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["10.1002\/ajmg.a.36022"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36022","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,3]]}}}