{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T05:47:13Z","timestamp":1782798433268,"version":"3.54.5"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:00:00Z","timestamp":1782777600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008061","name":"Fundaci\u00f3n Mutua Madrile\u00f1a","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008061","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012006","name":"Fundaci\u00f3n Conchita R\u00e1bago","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012006","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Biallelic variants in\n                    <jats:italic>GTF3C3<\/jats:italic>\n                    have been recently associated with an autosomal recessive form of syndromic intellectual disability, with only 16 patients reported to date. Using whole exome sequencing, we identified previously unreported biallelic\n                    <jats:italic>GTF3C3<\/jats:italic>\n                    variants in a new patient, who also represents the oldest reported individual so far. We detail the genotype and phenotype of this case and provide a comprehensive review of all published patients to better define the clinical features and their frequency. The most consistent manifestations across the cohort include global developmental delay, intellectual disability, epilepsy, central nervous system malformations, and additional neurological abnormalities. This case, together with the literature review, further delineates the phenotype associated with\n                    <jats:italic>GTF3C3<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1860633","type":"journal-article","created":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T05:41:50Z","timestamp":1782798110000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: Characterization of a patient with novel biallelic variants in GTF3C3 and comprehensive review of previously reported cases"],"prefix":"10.3389","volume":"17","author":[{"given":"Luc\u00eda","family":"L\u00f3pez-L\u00f3pez","sequence":"first","affiliation":[{"name":"Department of Genetics & Genomics, Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Health Research Institute-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, 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Spain"]},{"name":"Bioinformatics Unit, Health Research Institute-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM)","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bel\u00e9n","family":"Benavides","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Health Research Institute-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM)","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Ayuso","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Health Research Institute-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM)","place":["Madrid, Spain"]},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"M\u00ednguez","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Health Research Institute-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM)","place":["Madrid, Spain"]},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III","place":["Madrid, Spain"]},{"name":"Bioinformatics Unit, Health Research Institute-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM)","place":["Madrid, 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