{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T07:32:17Z","timestamp":1767857537048,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,2,22]],"date-time":"2010-02-22T00:00:00Z","timestamp":1266796800000},"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":[[2010,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lymphedema\u2013distichiasis syndrome is a rare primary lymphedema inherited as an autosomal dominant disorder. The characteristic features consist of late onset\u2010lymphedema and distichiasis together with other occasionally seen features including varicose vein, cleft palate, ptosis, and congenital heart diseases. <jats:italic>FOXC2<\/jats:italic> is the gene found to be associated with this syndrome. We report here the first Thai patient who has characteristic features of this syndrome and the infrequently described features including ankyloglossia, and Robin sequence which consists of glossoptosis, cleft palate, and micrognathia. Mutation analysis of <jats:italic>FOXC2<\/jats:italic> revealed c. 595\u2010596 insC. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33273","type":"journal-article","created":{"date-parts":[[2010,2,22]],"date-time":"2010-02-22T22:29:10Z","timestamp":1266877750000},"page":"737-740","source":"Crossref","is-referenced-by-count":7,"title":["c. 595\u2010596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient"],"prefix":"10.1002","volume":"152A","author":[{"given":"Pranoot","family":"Tanpaiboon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piranit","family":"Kantaputra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karn","family":"Wejathikul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wirawit","family":"Piyamongkol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,2,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100528"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi295"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.478"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1258\/phleb.2008.008010"},{"key":"e_1_2_4_6_1","first-page":"98","article-title":"Novel FOXC2 missense mutation identified in patient with lymphedema\u2013distichiasis syndrome and review","volume":"41","author":"Dellinger MT","year":"2008","journal-title":"Lymphology"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.761"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.13.2073"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.11.1185"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024075"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.77.5.289"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1094"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199404000-00009"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(02)01642-2"}],"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.33273","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33273","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T20:23:38Z","timestamp":1697055818000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33273"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,22]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["10.1002\/ajmg.a.33273"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33273","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,22]]}}}