{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T13:21:56Z","timestamp":1778678516645,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"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":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Wolf\u2013Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome associated with growth retardation, developmental disabilities, epileptic seizures, and distinct facial features resulting from a deletion of the short arm of chromosome 4. The Wolf\u2013Hirschhorn Syndrome Critical Region WHSCR2 includes the <jats:italic>LETM1<\/jats:italic> gene and 5\u2032 end of the <jats:italic>WHSC1<\/jats:italic> gene. A haploinsufficiency of <jats:italic>WHSC1<\/jats:italic> is thought to be responsible for a number of WHS characteristics. We report on a 2\u2010year\u2010old male with severe growth retardation, microcephaly and a characteristic facial appearance. He had no internal anomalies and his developmental milestones were mildly delayed. An array\u2010CGH analysis revealed loss of genomic copy numbers in the region 4p16.3, which included <jats:italic>FGFR3<\/jats:italic>, <jats:italic>LETM1<\/jats:italic>, and <jats:italic>WHSC1<\/jats:italic>. The size of the deletion was only 109\u2009kb. The deletion included the important genes in WHSCR2. We suspect that haploinsufficiency of <jats:italic>WHSC1<\/jats:italic> is the most probable cause of the growth deficiency, microcephaly, and characteristic facial features in WHS. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35910","type":"journal-article","created":{"date-parts":[[2013,5,2]],"date-time":"2013-05-02T05:34:13Z","timestamp":1367472853000},"page":"1465-1469","source":"Crossref","is-referenced-by-count":20,"title":["109\u2009kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf\u2013Hirschhorn syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Nobuhiko","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumi","family":"Ohmachi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shino","family":"Shimada","sequence":"additional","affiliation":[{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences Tokyo Japan"},{"name":"Department of Pediatrics Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Shimojima","sequence":"additional","affiliation":[{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.03233.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-390"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81069-7"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm297"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.168"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1110081108"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33121"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng863"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr293"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052910"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp563"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08086"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30775"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2003.08.013"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.08.013"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31900"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30188"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016865"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.2.317"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/367925"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30190"}],"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.35910","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35910","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T14:42:17Z","timestamp":1698676937000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35910"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1002\/ajmg.a.35910"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35910","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5]]}}}