{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T10:01:30Z","timestamp":1780308090530,"version":"3.54.0"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    To date, only two families with variants in the\n                    <jats:italic>IQSEC1<\/jats:italic>\n                    gene associated with intellectual developmental disorder with short stature and behavioral abnormalities (IDDSSBA) have been described. Here, we report an 8\u2010year\u2010old boy with short stature, speech delay, dysmorphic facial features, hypotonia, and behavioral disorders, as well as corpus callosum dysgenesis associated with compound heterozygous variants Pro1095ArgfsTer97 and Thr485Met in the\n                    <jats:italic>IQSEC1<\/jats:italic>\n                    gene. To our knowledge this is the first report of brain anomalies associated with\n                    <jats:italic>IQSEC1<\/jats:italic>\n                    variants, highlighting the need for MRI in affected patients.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70062","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T19:53:42Z","timestamp":1772999622000},"page":"1651-1656","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Biallelic Variants in\n                    <i>IQSEC1<\/i>\n                    in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (\n                    <scp>IDDSSBA<\/scp>\n                    ) and Corpus Callosum Dysgenesis"],"prefix":"10.1002","volume":"200","author":[{"given":"A. A.","family":"Kashevarova","sequence":"first","affiliation":[{"name":"Research Institute of Medical Genetics Tomsk National Research Medical Center of the Russian Academy of Sciences  Tomsk Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. I.","family":"Minaycheva","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics Tomsk National Research Medical Center of the Russian Academy of Sciences  Tomsk Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. A.","family":"Fonova","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics Tomsk National Research Medical Center of the Russian Academy of Sciences  Tomsk Russia"},{"name":"Siberian State Medical University  Tomsk Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O. Yu.","family":"Vasilyeva","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics Tomsk National Research Medical Center of the Russian Academy of Sciences  Tomsk Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. A.","family":"Zarubin","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics Tomsk National Research Medical Center of the Russian Academy of Sciences  Tomsk Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. G.","family":"Ravzhaeva","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics Tomsk National Research Medical Center of the Russian Academy of Sciences  Tomsk Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. 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N.","family":"Seitova","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics Tomsk National Research Medical Center of the Russian Academy of Sciences  Tomsk Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0482-8046","authenticated-orcid":false,"given":"I. 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