{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:09:27Z","timestamp":1762160967890},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,2,14]],"date-time":"2013-02-14T00:00:00Z","timestamp":1360800000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a 10\u2010year\u2010old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>29A3<\/jats:italic> gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder.<\/jats:p>","DOI":"10.1111\/pde.12085","type":"journal-article","created":{"date-parts":[[2013,2,14]],"date-time":"2013-02-14T07:52:56Z","timestamp":1360828376000},"source":"Crossref","is-referenced-by-count":11,"title":["Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel <i><scp>SLC<\/scp>29A3<\/i> Mutation"],"prefix":"10.1111","volume":"30","author":[{"given":"G\u00fcl Yesiltepe","family":"Mutlu","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes Kocaeli University School of Medicine Kocaeli Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuval","family":"Ramot","sequence":"additional","affiliation":[{"name":"Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kadir","family":"Babaoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Kocaeli University School of Medicine Kocaeli Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gurkan","family":"Altun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Kocaeli University School of Medicine Kocaeli Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abraham","family":"Zlotogorski","sequence":"additional","affiliation":[{"name":"Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vered","family":"Molho\u2010Pessach","sequence":"additional","affiliation":[{"name":"Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,2,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.03.021"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.013"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e3181ee547c"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1213682"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp161"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000833"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2010.03.053"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.09.011"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09653.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2009.02843.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.03.2011.4019"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds326"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2007.00352.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crad.2011.08.006"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525\u20101470.2012.01774.x"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12085","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12085","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T22:50:53Z","timestamp":1696027853000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12085"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,14]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1111\/pde.12085"],"URL":"https:\/\/doi.org\/10.1111\/pde.12085","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,14]]}}}