{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:52:49Z","timestamp":1786978369256,"version":"build-2736575974"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,3,10]],"date-time":"2022-03-10T00:00:00Z","timestamp":1646870400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      DeSanto\u2010Shinawi syndrome is a rare neurodevelopmental disorder caused by loss\u2010of\u2010function variants of\n                      <jats:italic>WAC<\/jats:italic>\n                      , located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disability, and behavioral problems.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case report<\/jats:title>\n                    <jats:p>In this case report, we present a new deletion case and summarize the clinical data of previously reported individuals, comparing the similarities and differences between cases caused by point mutations versus those which are caused by deletions in the 10p region.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Some differential features could facilitate the diagnostic suspicion guiding the optimal diagnostic tests that should be requested in each case scenario.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1910","type":"journal-article","created":{"date-parts":[[2022,3,10]],"date-time":"2022-03-10T04:15:40Z","timestamp":1646885740000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Phenotypic comparison of patients affected with DeSanto\u2010Shinawi syndrome: Point mutations in\n                    <i>WAC<\/i>\n                    gene versus a 10p12.1 microdeletion including\n                    <i>WAC<\/i>"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9532-2122","authenticated-orcid":false,"given":"Cristina","family":"Toledo\u2010Gotor","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics San Pedro Hospital  Logro\u00f1o Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7724-1860","authenticated-orcid":false,"given":"Cristina","family":"Garc\u00eda\u2010Muro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics San Pedro Hospital  Logro\u00f1o Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3425-9884","authenticated-orcid":false,"given":"Alberto","family":"Garc\u00eda\u2010Oguiza","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics Txagorritxu Hospital  Vitoria Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00aa. Luisa","family":"Poch\u2010Oliv\u00e9","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics San Pedro Hospital  Logro\u00f1o Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00aa. Yolanda","family":"Ruiz\u2010del Prado","sequence":"additional","affiliation":[{"name":"Department of Pediatrics San Pedro Hospital  Logro\u00f1o Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2066-0511","authenticated-orcid":false,"given":"Elena","family":"Dom\u00ednguez\u2010Garrido","sequence":"additional","affiliation":[{"name":"Molecular Diagnostic Unit Rioja Salud Foundation  Logro\u00f1o Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,10]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.12.010"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/8820966"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103069"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11030344"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.282"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2011.154"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32088"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38703"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000488815"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.71"},{"key":"e_1_2_11_12_1","first-page":"802","article-title":"WAC gene pathogenic variation cause DeSanto\u2010Shinawi syndrome with electrical status epilepticus during sleep","volume":"57","author":"Zhang Y. J.","year":"2019","journal-title":"Chinese Journal of Pediatrics"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1910","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1910","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1910","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T15:52:03Z","timestamp":1692978723000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1910"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,10]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/mgg3.1910"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1910","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,10]]},"assertion":[{"value":"2021-12-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1910"}}