{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,20]],"date-time":"2023-11-20T12:40:12Z","timestamp":1700484012998},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,11,18]],"date-time":"2013-11-18T00:00:00Z","timestamp":1384732800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:p>Williams\u2013Beuren syndrome (WBS) is a multisystemic genomic disorder typically caused by a recurrent \u02dc1.5\u20131.8\u2009Mb deletion on 7q11.23. Atypical deletions can provide important insight into the genotype\u2013phenotype correlations. Here, we report the phenotypic and molecular characterization of a girl with a <jats:italic>de novo<\/jats:italic> 81.8\u2009kb deletion in the WBS critical region, which involves the <jats:italic><jats:styled-content style=\"fixed-case\">ELN<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">LIMK1<\/jats:styled-content><\/jats:italic> genes only. The patient presented at 2\u2009months of age with extensive vascular abnormalities, mild facial dysmorphism and delays in her fine motor skills. We discuss potential molecular mechanisms and the role of <jats:styled-content style=\"fixed-case\">ELN<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">LIMK1<\/jats:styled-content> in the different phenotypic features. We compare the findings in our patient with previously reported overlapping deletions. The phenotypic variability among these patients suggests that other factors are important in the phenotype and possibly include: position effects related to copy number variation size, variations in the non\u2010deleted alleles, genetic modifiers elsewhere in the genome, or reduced penetrance for specific phenotypes.<\/jats:p>","DOI":"10.1111\/cge.12305","type":"journal-article","created":{"date-parts":[[2013,10,21]],"date-time":"2013-10-21T20:07:03Z","timestamp":1382386023000},"page":"487-491","source":"Crossref","is-referenced-by-count":7,"title":["Molecular and phenotypic characterization of atypical Williams\u2013Beuren syndrome"],"prefix":"10.1111","volume":"86","author":[{"given":"J.","family":"Euteneuer","sequence":"first","affiliation":[{"name":"Department of Pediatrics Washington University School of Medicine St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.M.B.","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kulkarni","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Washington University School of Medicine St. Louis MO USA"},{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Vineyard","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Mark Grady","sequence":"additional","affiliation":[{"name":"Division of Cardiology Washington University School of Medicine St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.R.","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Shinawi","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,11,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80077-X"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/brcg.2000.1232"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0903074"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(98)01555-8"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20496"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302214"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.526"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.136"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2006.12.009"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.071712"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.274779"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)00758-4"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.020"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-2507"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182106775"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12305","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T14:33:09Z","timestamp":1694442789000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,18]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1111\/cge.12305"],"URL":"https:\/\/doi.org\/10.1111\/cge.12305","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,18]]}}}