{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:06:41Z","timestamp":1792166801570,"version":"4.4.0"},"reference-count":12,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2008,11,12]],"date-time":"2008-11-12T00:00:00Z","timestamp":1226448000000},"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":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on somatic mosaicism of a <jats:italic>TGFBR2<\/jats:italic> missense mutation, c.1336G\u2009&gt;\u2009A (D446N). The affected son with the heterozygous mutation was previously reported [Sakai et al. (2006); Am J Med Genet A 140A:1719\u20131725]. Further evaluation indicates his clinical condition is Loeys\u2013Dietz syndrome. Parental blood samples were studied to confirm whether the propositus' mutation was a de novo change, and suggested a trace of the mutation in the father. DNAs extracted from blood leukocytes, buccal cells, hair root cells, and nails in the father indicated 52%, 25%, 0%, and 35% of cells harbored the mutation, respectively. This is the first detailed report of somatic mosaicism of a <jats:italic>TGFBR2<\/jats:italic> mutation. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32567","type":"journal-article","created":{"date-parts":[[2008,11,13]],"date-time":"2008-11-13T02:38:40Z","timestamp":1226543920000},"page":"3070-3074","source":"Crossref","is-referenced-by-count":23,"title":["Paternal somatic mosaicism of a <i>TGFBR2<\/i> mutation transmitting to an affected son with Loeys\u2013Dietz syndrome"],"prefix":"10.1002","volume":"146A","author":[{"given":"Yoriko","family":"Watanabe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruya","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Mizuguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,11,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.hco.0000162398.21972.cd"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302545"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10249"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/352337a0"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0078-1"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1392"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/302144"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302309"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31353"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31660"}],"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.32567","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32567","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:45:56Z","timestamp":1697618756000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32567"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,12]]},"references-count":12,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1002\/ajmg.a.32567"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32567","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,12]]}}}