{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:24:13Z","timestamp":1782779053055,"version":"3.54.5"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T00:00:00Z","timestamp":1666051200000},"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":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Williams\u2010Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders, HLA DQ2 and\/or DQ8 haplotypes, of transglutaminase antibodies and of diagnosis of celiac disease in a cohort of 93 Williams\u2010Beuren syndrome's patients (mean age 21.26\u2009years). Our study showed an increased prevalence of celiac disease equal to 10.8% (10\/93 patients). We did not find a significant different frequency of predisposing HLA in subjects with Williams\u2010Beuren syndrome compared to literature data in the general population (49.5% vs. 42.9%, with <jats:italic>p<\/jats:italic>\u00a0&gt;\u2009.1), nor a susceptibility to autoimmunity. This suggests that the increased prevalence of celiac disease in Williams\u2010Beuren syndrome cannot be ascribed to HLA haplotype and may be related to other factors that still need to be identified in these patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.62990","type":"journal-article","created":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T08:34:44Z","timestamp":1666082084000},"page":"84-89","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Celiac disease prevalence and <scp>predisposing\u2010HLA<\/scp> in a cohort of 93 <scp>Williams\u2010Beuren<\/scp> syndrome patients"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2780-7838","authenticated-orcid":false,"given":"Cecilia","family":"Ghisleni","sequence":"first","affiliation":[{"name":"Department of Pediatric, \u201cF. Del Ponte\u201d Hospital University of Insubria  Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Parma","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Mariani Foundation Center for Fragile Children, ASST\u2010Lariana Sant'Anna Hospital  San Fermo Della Battaglia (Como) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6548-4128","authenticated-orcid":false,"given":"Paola","family":"Cianci","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Mariani Foundation Center for Fragile Children, ASST\u2010Lariana Sant'Anna Hospital  San Fermo Della Battaglia (Como) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"De Paoli","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Mariani Foundation Center for Fragile Children, ASST\u2010Lariana Sant'Anna Hospital  San Fermo Della Battaglia (Como) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Pangallo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Fondazione MBMM San Gerardo Hospital  Monza Italy"},{"name":"Department of Pediatric \u201cPapa Giovanni XXIII\u201d Hospital  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Agovino","sequence":"additional","affiliation":[{"name":"Department of Pediatric \u201cPapa Giovanni XXIII\u201d Hospital  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Cereda","sequence":"additional","affiliation":[{"name":"Department of Pediatric \u201cPapa Giovanni XXIII\u201d Hospital  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0174-3562","authenticated-orcid":false,"given":"Maria Francesca","family":"Bedeschi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Villa","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fossati","sequence":"additional","affiliation":[{"name":"Department of Pediatric Fondazione MBMM San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piergiorgio","family":"Modena","sequence":"additional","affiliation":[{"name":"Genetics Unit, ASST\u2010Lariana Sant'Anna Hospital  Como Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Giudici","sequence":"additional","affiliation":[{"name":"Genetics Unit, ASST\u2010Lariana Sant'Anna Hospital  Como Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Morando","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neonatal Intensive Care Unit San Bortolo Hospital of Vicenza  Vicenza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Memo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neonatal Intensive Care Unit San Bortolo Hospital of Vicenza  Vicenza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Fondazione Policlinico Gemelli  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Department of Pediatric Fondazione Policlinico Gemelli  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Salvatore","sequence":"additional","affiliation":[{"name":"Department of Pediatric, \u201cF. Del Ponte\u201d Hospital University of Insubria  Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Agosti","sequence":"additional","affiliation":[{"name":"Department of Pediatric, \u201cF. Del Ponte\u201d Hospital University of Insubria  Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Mariani Foundation Center for Fragile Children, ASST\u2010Lariana Sant'Anna Hospital  San Fermo Della Battaglia (Como) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,10,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/2050640619844125"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.23750\/ABM.V90I3.8737"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/GENES12020268"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.CGH.2019.06.013"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/JMG.38.11.767"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000503142"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001216"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000002497"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0B013E31821A23D0"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.38672"},{"issue":"6","key":"e_1_2_9_12_1","first-page":"599","article-title":"Celiac disease in patients with Williams\u2010Beuren syndrome","volume":"57","author":"M\u0131h\u00e7\u0131 E.","year":"2015","journal-title":"Turkish Journal of Pediatrics"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-3761"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.EJMG.2020.103999"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.4321\/S1130-01082012000500005"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMRA0903074"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3748\/WJG.V28.I1.154"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-200101000-00033"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.5409\/WJCP.V10.I4.53"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.5409\/WJCP.V11.I4.351"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176\u2010199610000\u201000029"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/S00018-008-8401-Y"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.31210"},{"issue":"2","key":"e_1_2_9_24_1","first-page":"154","article-title":"Celiac disease in Williams\u2010Beuren syndrome","volume":"56","author":"\u015eim\u015fek\u2010Kiper P. \u00d6.","year":"2014","journal-title":"Turkish Journal of Pediatrics"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/J.1365-2265.2005.02365.X"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-61"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mpg.0000450394.30780.ea"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/NCPRHEUM0624"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.JPEDS.2008.08.007"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62990","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62990","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62990","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T09:59:33Z","timestamp":1692439173000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62990"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,18]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1002\/ajmg.a.62990"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62990","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,18]]},"assertion":[{"value":"2022-07-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}