{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:46Z","timestamp":1786976806908,"version":"build-2736575974"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,24]],"date-time":"2020-10-24T00:00:00Z","timestamp":1603497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Williams\u2013Beurens syndrome (WBS) is a rare genetic disorder caused by a recurrent 7q11.23 microdeletion. Clinical characteristics include typical facial dysmorphisms, weakness of connective tissue, short stature, mild to moderate intellectual disability and distinct behavioral phenotype. Cardiovascular diseases are common due to haploinsufficiency of\n                    <jats:italic>ELN<\/jats:italic>\n                    gene. A few cases of larger or smaller deletions have been reported spanning towards the centromeric or the telomeric regions, most of which included\n                    <jats:italic>ELN<\/jats:italic>\n                    gene. We report on three patients from two unrelated families, presenting with distinctive WBS features, harboring an atypical distal deletion excluding\n                    <jats:italic>ELN<\/jats:italic>\n                    gene. Our study supports a critical role of\n                    <jats:italic>CLIP2<\/jats:italic>\n                    ,\n                    <jats:italic>GTF2IRD1<\/jats:italic>\n                    , and\n                    <jats:italic>GTF2I<\/jats:italic>\n                    gene in the WBS neurobehavioral profile and in craniofacial features, highlights a possible role of\n                    <jats:italic>HIP1<\/jats:italic>\n                    in the autism spectrum disorder, and delineates a subgroup of WBS individuals with an atypical distal deletion not associated to an increased risk of cardiovascular defects.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61937","type":"journal-article","created":{"date-parts":[[2020,10,24]],"date-time":"2020-10-24T05:32:39Z","timestamp":1603517559000},"page":"242-249","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Atypical 7q11.23 deletions excluding\n                    <scp>\n                      <i>ELN<\/i>\n                    <\/scp>\n                    gene result in\n                    <scp>Williams\u2013Beuren<\/scp>\n                    syndrome craniofacial features and neurocognitive profile"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7514-5683","authenticated-orcid":false,"given":"Viola","family":"Alesi","sequence":"first","affiliation":[{"name":"Bambino Ges\u00f9 Children Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8837-3519","authenticated-orcid":false,"given":"Sara","family":"Loddo","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Orlando","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children Hospital IRCCS  Rome 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