{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T06:50:00Z","timestamp":1790664600042,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T00:00:00Z","timestamp":1490745600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Recently, de novo heterozygous variants in\n                      <jats:italic>DDX3X<\/jats:italic>\n                      have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We report on the identification of\n                      <jats:italic>DDX3X<\/jats:italic>\n                      variants in two unrelated girls with clinical features of Toriello\u2013Carey Syndrome (T\u2010CS). In patient 1, the recurrent variant c.1703C&gt;T; p.(P568L) was identified when reconsidering X\u2010linked de novo heterozygous variants in exome sequencing data. In patient 2, the\n                      <jats:italic>DDX3X<\/jats:italic>\n                      variant c.1600C&gt;G; p.(R534G) was also detected by exome sequencing. Based on these data, de novo heterozygous\n                      <jats:italic>DDX3X<\/jats:italic>\n                      variants should be considered not only in females with unexplained ID, but also in individuals with a clinical diagnosis of T\u2010CS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38164","type":"journal-article","created":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T09:48:39Z","timestamp":1490780919000},"page":"1369-1373","source":"Crossref","is-referenced-by-count":46,"title":["<i>DDX3X<\/i>\n                    mutations in two girls with a phenotype overlapping Toriello\u2013Carey syndrome"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4631-9829","authenticated-orcid":false,"given":"Nicola","family":"Dikow","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Granzow","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luitgard M.","family":"Graul\u2010Neumann","sequence":"additional","affiliation":[{"name":"Ambulantes Gesundheitszentrum Humangenetik Charit\u00e9 Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Karch","sequence":"additional","affiliation":[{"name":"Center for Child and Adolescent Medicine Pediatric Neurology Heidelberg University Hospital Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hinderhofer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nagarajan","family":"Paramasivam","sequence":"additional","affiliation":[{"name":"Medical Faculty Heidelberg Heidelberg University Heidelberg Germany"},{"name":"Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura\u2010Jane","family":"Behl","sequence":"additional","affiliation":[{"name":"Genomics and Proteomics Core Facility High Throughput Sequencing German Cancer Research Center Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian","family":"Kaufmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Fischer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5104-9918","authenticated-orcid":false,"given":"Christina","family":"Evers","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Schlesner","sequence":"additional","affiliation":[{"name":"Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland","family":"Eils","sequence":"additional","affiliation":[{"name":"Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany"},{"name":"Department for Bioinformatics and Functional Genomics Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guntram","family":"Borck","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Ulm Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Zweier","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claus R.","family":"Bartram","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics University of Utah School of Medicine Salt Lake City 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