{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:36:43Z","timestamp":1697614603506},"reference-count":8,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2007,9,12]],"date-time":"2007-09-12T00:00:00Z","timestamp":1189555200000},"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":[[2007,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31949","type":"journal-article","created":{"date-parts":[[2007,9,12]],"date-time":"2007-09-12T22:47:06Z","timestamp":1189637226000},"page":"2448-2451","source":"Crossref","is-referenced-by-count":5,"title":["Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons\u2013Bianchi syndrome"],"prefix":"10.1002","volume":"143A","author":[{"given":"M.A.M.","family":"van Steensel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"van Geel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Schrander\u2010Stumpel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.M.","family":"Steijlen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.C.J.M.","family":"Veraart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,9,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024802"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.761"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.11.1185"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1996.tb03447.x"},{"key":"e_1_2_5_6_1","first-page":"515","article-title":"Hypotrichosis, lymphedema of the legs and acral telangiectasias\u2014New syndrome?","volume":"11","author":"Glade C","year":"2001","journal-title":"Eur J Dermatol"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340429"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<69::AID-AJMG15>3.0.CO;2-O"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/375614"}],"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.31949","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31949","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:40:28Z","timestamp":1697593228000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31949"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9,12]]},"references-count":8,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2007,10,15]]}},"alternative-id":["10.1002\/ajmg.a.31949"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31949","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,9,12]]}}}