{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:47:46Z","timestamp":1790858866979,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,9]],"date-time":"2021-01-09T00:00:00Z","timestamp":1610150400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GFB18001"],"award-info":[{"award-number":["GFB18001"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GTB12001"],"award-info":[{"award-number":["GTB12001"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>IQSEC2<\/jats:italic>\n                    mutations are associated with\n                    <jats:italic>IQSEC2<\/jats:italic>\n                    \u2010related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype\u2013phenotype relationship for\n                    <jats:italic>IQSEC2<\/jats:italic>\n                    remains overall complex. As for\n                    <jats:italic>IQSEC2<\/jats:italic>\n                    \u2010related ID a wide phenotypic diversity has been described in Rett syndrome (RTT). Several patients harboring\n                    <jats:italic>IQSEC2<\/jats:italic>\n                    mutations present with clinical symptoms similar to RTT and some cases meet most of the criteria for classic RTT. With the aim of establishing a genotype\u2013phenotype correlation, we collected data of 16 patients harboring\n                    <jats:italic>IQSEC2<\/jats:italic>\n                    point mutations (15 of them previously unreported) and of five novel patients carrying CNVs encompassing\n                    <jats:italic>IQSEC2<\/jats:italic>\n                    . Most of our patients surprisingly shared a moderate\u2010to\u2010mild phenotype. The similarities in the clinical course between our mild cases and patients with milder forms of atypical RTT reinforce the hypothesis that also\n                    <jats:italic>IQSEC2<\/jats:italic>\n                    mutated patients may lay under the wide clinical spectrum of RTT and thus\n                    <jats:italic>IQSEC2<\/jats:italic>\n                    should be considered in the differential diagnosis. Our data confirm that position, type of variant and gender are crucial for\n                    <jats:italic>IQSEC2<\/jats:italic>\n                    \u2010associated phenotype delineation.\n                  <\/jats:p>","DOI":"10.1111\/cge.13908","type":"journal-article","created":{"date-parts":[[2020,12,28]],"date-time":"2020-12-28T07:25:52Z","timestamp":1609140352000},"page":"462-474","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["<scp>\n                      <i>IQSEC2<\/i>\n                    <\/scp>\n                    disorder: A new disease entity or a Rett spectrum continuum?"],"prefix":"10.1111","volume":"99","author":[{"given":"Diego","family":"Lopergolo","sequence":"first","affiliation":[{"name":"Medical Genetics University of Siena  Siena Italy"},{"name":"Genetica Medica Azienda Ospedaliera Universitaria Senese  Siena 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Ospedaliera Universitaria Senese  Siena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Ariani","sequence":"additional","affiliation":[{"name":"Medical Genetics University of Siena  Siena Italy"},{"name":"Genetica Medica Azienda Ospedaliera Universitaria Senese  Siena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"Curr\u00f2","sequence":"additional","affiliation":[{"name":"Medical Genetics University of Siena  Siena Italy"},{"name":"Genetica Medica Azienda Ospedaliera Universitaria Senese  Siena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vittoria","family":"Lamacchia","sequence":"additional","affiliation":[{"name":"Medical Genetics University of Siena  Siena Italy"},{"name":"Genetica Medica Azienda Ospedaliera Universitaria Senese  Siena 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