{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T23:27:50Z","timestamp":1780529270250,"version":"3.54.1"},"reference-count":50,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2007,9,1]],"date-time":"2007-09-01T00:00:00Z","timestamp":1188604800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,9,1]],"date-time":"2007-09-01T00:00:00Z","timestamp":1188604800000},"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":[[2007,9]]},"DOI":"10.1016\/j.ejmg.2007.05.005","type":"journal-article","created":{"date-parts":[[2007,6,7]],"date-time":"2007-06-07T15:36:50Z","timestamp":1181230610000},"page":"327-337","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":62,"title":["Presenting phenotype and clinical evaluation in a cohort of 22 Williams\u2013Beuren syndrome patients"],"prefix":"10.1016","volume":"50","author":[{"given":"Giovanni Battista","family":"Ferrero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Biamino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Sorasio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Banaudi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Licia","family":"Peruzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Forzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovica","family":"Verdun di Cantogno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita Cirillo","family":"Silengo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2007.05.005_bib1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1086\/376565","article-title":"Mutational mechanisms of Williams\u2013Beuren syndrome deletions","volume":"73","author":"Bayes","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib2","first-page":"45","article-title":"Supravalvular aortic stenosis: a complex syndrome with and without mental retardation","volume":"VIII","author":"Beuren","year":"1972","journal-title":"Birth Defects Orig. Art. Ser."},{"key":"10.1016\/j.ejmg.2007.05.005_bib3","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<356::AID-AJMG2>3.0.CO;2-X","article-title":"Elevated ambulatory blood pressure in 20 subjects with Williams syndrome","volume":"83","author":"Broder","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib4","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1136\/jmg.36.6.478","article-title":"Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes","volume":"36","author":"Botta","year":"1999","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib5","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.jpeds.2006.10.060","article-title":"Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome","volume":"150","author":"Cambiaso","year":"2007","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ejmg.2007.05.005_bib6","first-page":"117","article-title":"Early puberty in Williams syndrome","volume":"8","author":"Cherniske","year":"1999","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2007.05.005_bib7","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1542\/peds.107.5.1192","article-title":"Health care supervision for children with Williams Syndrome","volume":"107","author":"Committee on Genetics of American Academy of Pediatrics","year":"2001","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2007.05.005_bib8","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/0092-8674(93)90168-P","article-title":"The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis","volume":"73","author":"Curran","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2007.05.005_bib9","first-page":"244","article-title":"Linee guida per la sindrome di Williams","volume":"26","author":"Dallapiccola","year":"2000","journal-title":"Riv. Ital. Pediatr."},{"key":"10.1016\/j.ejmg.2007.05.005_bib10","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1086\/501073","article-title":"Hemizygosity at the NCF1 gene in patients with Williams\u2013Beuren syndrome decreases their risk of hypertension","volume":"78","author":"Del Campo","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib11","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/S0945-053X(00)00101-3","article-title":"Mouse models of genetic diseases resulting from mutations in elastic fiber proteins","volume":"19","author":"Dietz","year":"2002","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ejmg.2007.05.005_bib12","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/1096-8628(200022)97:2<164::AID-AJMG8>3.0.CO;2-F","article-title":"Williams syndrome: from genotype through to the cognitive phenotype","volume":"97","author":"Donnai","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib13","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1136\/jmg.2006.044537","article-title":"An atypical deletion of the Williams\u2013Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism","volume":"44","author":"Edelmann","year":"2007","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib14","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/jmg.39.8.554","article-title":"Cardiovascular manifestations in 75 patients with Williams Syndrome","volume":"39","author":"Eronen","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib15","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ng0993-11","article-title":"Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome","volume":"5","author":"Ewart","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib16","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S0092-8674(00)80077-X","article-title":"LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition","volume":"86","author":"Frangiskakis","year":"1996","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2007.05.005_bib17","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1136\/jmg.40.7.526","article-title":"Unusual cognitive and behavioural profile in Williams syndrome with atypical 7q11.23 deletion","volume":"40","author":"Gagliardi","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib18","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1002\/(SICI)1096-8628(19970919)74:5<521::AID-AJMG13>3.0.CO;2-E","article-title":"Cognitive, adaptive, and behavioral characteristics of Williams sindrome","volume":"74","author":"Greer","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib19","doi-asserted-by":"crossref","first-page":"e99","DOI":"10.1136\/jmg.40.8.e99","article-title":"Partial deletion of the critical 1.5Mb interval in Williams\u2013Beuren syndrome","volume":"40","author":"Heller","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib20","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1097\/01.GIM.0000076975.10224.67","article-title":"Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23","volume":"5","author":"Hirota","year":"2003","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2007.05.005_bib21","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1038\/ng954","article-title":"Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice","volume":"32","author":"Hoogenraad","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib22","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1146\/annurev.genom.3.032802.120023","article-title":"Molecular mechanism for genomic disorders","volume":"3","author":"Inoue","year":"2002","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib23","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1136\/jmg.40.2.136","article-title":"Using case study comparisons to explore genotype-phenotype correlations in Williams\u2013Beuren syndrome","volume":"40","author":"Karmiloff-Smith","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib24","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1017\/S1047951100007356","article-title":"Natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis in Williams' syndrome","volume":"9","author":"Kim","year":"1999","journal-title":"Cardiol. Young"},{"key":"10.1016\/j.ejmg.2007.05.005_bib25","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1172\/JCI4487","article-title":"Novel arterial pathology in mouse and humans hemizygous for elastin","volume":"102","author":"Li","year":"1998","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ejmg.2007.05.005_bib26","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S1090-3798(97)80055-4","article-title":"Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study","volume":"1","author":"Mercuri","year":"1997","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.ejmg.2007.05.005_bib27","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1086\/506371","article-title":"Submicroscopic deletion in patients with Williams\u2013Beuren syndrome influences expression levels of the nonhemizygous flanking genes","volume":"79","author":"Merla","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib28","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/1098-2779(2000)6:2<148::AID-MRDD10>3.0.CO;2-T","article-title":"Williams syndrome: cognition, personality, and adaptive behaviour","volume":"6","author":"Mervis","year":"2000","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"10.1016\/j.ejmg.2007.05.005_bib29","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/mrdd.20140","article-title":"Language and communicative development in Williams syndrome","volume":"13","author":"Mervis","year":"2007","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"10.1016\/j.ejmg.2007.05.005_bib30","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/nrn1906","article-title":"Neural mechanism in Williams syndrome: a unique window to genetic influences on cognition and behaviour","volume":"7","author":"Meyer-Lindemberg","year":"2006","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.ejmg.2007.05.005_bib31","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1097\/00019605-200504000-00002","article-title":"Autosomal dominant inheritance of Williams\u2013Beuren syndrome in a father and son with haploinsufficiency for FKBP6","volume":"14","author":"Metcalfe","year":"2005","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2007.05.005_bib32","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/ajmg.1320470409","article-title":"Williams syndrome: autosomal dominant inheritance","volume":"47","author":"Morris","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib33","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ajmg.a.20496","article-title":"GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region","volume":"123A","author":"Morris","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib34","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1002\/1096-8628(20010201)98:4<324::AID-AJMG1103>3.0.CO;2-5","article-title":"Familial Williams\u2013Beuren syndrome showing varying clinical expression","volume":"98","author":"Pankau","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib35","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/S0022-3476(99)70376-8","article-title":"Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome","volume":"134","author":"Partsch","year":"1999","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ejmg.2007.05.005_bib36","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1067\/mpd.2002.127280","article-title":"Central precocious puberty in girls with Williams syndrome","volume":"141","author":"Partsch","year":"2002","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ejmg.2007.05.005_bib37","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/0887-8994(94)00117-K","article-title":"Association of Chiari I malformation and Williams syndrome","volume":"12","author":"Pober","year":"1995","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ejmg.2007.05.005_bib38","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1067\/mpd.2001.118889","article-title":"Differences by sex in cardiovascular disease in Williams syndrome","volume":"139","author":"Sadler","year":"2001","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ejmg.2007.05.005_bib39","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1002\/ajmg.a.31210","article-title":"Thyroid anomalies in Williams syndrome: investigation of 95 patients","volume":"140","author":"Selicorni","year":"2006","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib40","first-page":"405","article-title":"A successful surgical repair of total anomalous pulmonary venous connection associated with Williams syndrome","volume":"50","author":"Shimamoto","year":"1997","journal-title":"Kyobu Geka"},{"key":"10.1016\/j.ejmg.2007.05.005_bib41","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S1010-7940(00)00647-3","article-title":"Congenital supravalvar aortic stenosis: a simple lesion? Eur","volume":"19","author":"Stamm","year":"2001","journal-title":"J. Cardiothorac. Surg."},{"key":"10.1016\/j.ejmg.2007.05.005_bib42","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1177\/088307380201700406","article-title":"Prevalence estimation of Williams syndrome","volume":"17","author":"Stromme","year":"2002","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ejmg.2007.05.005_bib43","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1086\/302214","article-title":"Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes","volume":"64","author":"Tassabehji","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib44","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1093\/hmg\/ddg299","article-title":"Williams\u2013Beuren syndrome: a challenge for genotype-phenotype correlations","volume":"12","author":"Tassabehji","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib45","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1126\/science.1116142","article-title":"GTF2IRD1 in craniofacial development of humans and mice","volume":"310","author":"Tassabehji","year":"2005","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2007.05.005_bib46","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.nbd.2006.12.009","article-title":"Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome","volume":"26","author":"van Hagen","year":"2007","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ejmg.2007.05.005_bib47","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/ajmg.1320520309","article-title":"Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams\u2013Beuren syndrome","volume":"52","author":"Wessel","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib48","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/s003920050056","article-title":"Arterial hypertension and blood pressure profile in patients with Williams\u2013Beuren syndrome","volume":"86","author":"Wessel","year":"1997","journal-title":"Z. Kardiol."},{"key":"10.1016\/j.ejmg.2007.05.005_bib49","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/j.1399-0004.1996.tb04320.x","article-title":"The spectrum of ocular features in the Williams\u2013Beuren syndrome","volume":"49","author":"Winter","year":"1996","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2007.05.005_bib50","first-page":"22","article-title":"Williams\u2013Beuren syndrome in the Hong Kong Chinese population: retrospective study","volume":"10","author":"Yau","year":"2004","journal-title":"J. Hong Kong Med."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721207000560?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721207000560?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:35:27Z","timestamp":1761708927000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721207000560"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9]]},"references-count":50,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["S1769721207000560"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2007.05.005","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2007,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Presenting phenotype and clinical evaluation in a cohort of 22 Williams\u2013Beuren syndrome patients","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2007.05.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Published by Elsevier Masson SAS","name":"copyright","label":"Copyright"}]}}