{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T11:07:14Z","timestamp":1773832034317,"version":"3.50.1"},"reference-count":7,"publisher":"Elsevier BV","issue":"2-3","license":[{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1016\/j.ejmg.2013.12.005","type":"journal-article","created":{"date-parts":[[2014,1,3]],"date-time":"2014-01-03T20:52:25Z","timestamp":1388782345000},"page":"81-84","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["A prenatal case of split-hand malformation associated with 17p13.3 triplication \u2013 A dilemma in genetic counseling"],"prefix":"10.1016","volume":"57","author":[{"given":"H.M.","family":"Luk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent C.H.","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan F.M.","family":"Lo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelvin Y.K.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth T.","family":"Lau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita S.Y.","family":"Kan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary H.Y.","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.F.","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wandy M.K.","family":"She","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoyo W.Y.","family":"Chu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.K.","family":"Sin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian H.Y.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2013.12.005_bib1","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1038\/ejhg.2011.97","article-title":"17p13.3 microduplications are associated with split-hand\/foot malformation and long-bone deficiency (SHFLD)","volume":"19","author":"Armour","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejmg.2013.12.005_bib2","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/ng.302","article-title":"Increased LIS1 expression affects human and mouse brain development","volume":"41","author":"Bi","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejmg.2013.12.005_bib3","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1136\/jmg.2009.069906","article-title":"Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes","volume":"47","author":"Bruno","year":"2010","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ejmg.2013.12.005_bib4","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/j.ejmg.2012.09.011","article-title":"A\u00a0newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features \u2013 is cardiac assessment necessary for all patients with 17p13.3 microduplication?","volume":"55","author":"Ho","year":"2012","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.ejmg.2013.12.005_bib5","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1136\/jmedgenet-2011-100409","article-title":"Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion","volume":"49","author":"Klopocki","year":"2012","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ejmg.2013.12.005_bib6","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1007\/s00439-008-0515-7","article-title":"A\u00a0novel locus for split-hand\/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3","volume":"123","author":"Lezirovitz","year":"2008","journal-title":"Hum Genet"},{"key":"10.1016\/j.ejmg.2013.12.005_bib7","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721213002620?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721213002620?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:12Z","timestamp":1761709272000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721213002620"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2]]},"references-count":7,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["S1769721213002620"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.12.005","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A prenatal case of split-hand malformation associated with 17p13.3 triplication \u2013 A dilemma in genetic counseling","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.12.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}