{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:19:49Z","timestamp":1790752789895,"version":"4.1.0"},"reference-count":28,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5751","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2005,11,18]]},"abstract":"<jats:p>\n                    Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that\n                    <jats:italic>GTF2IRD1<\/jats:italic>\n                    is a genetic determinant of mammalian craniofacial and cognitive development, and we implicate another member of the TFII-I transcription factor family,\n                    <jats:italic>GTF2I<\/jats:italic>\n                    , in both aspects.\n                    <jats:italic>Gtf2ird1<\/jats:italic>\n                    -null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of\n                    <jats:italic>goosecoid<\/jats:italic>\n                    , a downstream target of\n                    <jats:italic>Gtf2ird1<\/jats:italic>\n                    . In humans, a rare WBS individual with an atypical deletion, including\n                    <jats:italic>GTF2IRD1<\/jats:italic>\n                    , shows facial dysmorphism and cognitive deficits that differ from those of classic WBS cases. We propose a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders.\n                  <\/jats:p>","DOI":"10.1126\/science.1116142","type":"journal-article","created":{"date-parts":[[2005,11,3]],"date-time":"2005-11-03T20:49:08Z","timestamp":1131050948000},"page":"1184-1187","source":"Crossref","is-referenced-by-count":176,"title":["GTF2IRD1 in Craniofacial Development of Humans and Mice"],"prefix":"10.1126","volume":"310","author":[{"given":"May","family":"Tassabehji","sequence":"first","affiliation":[{"name":"Academic Unit of Medical Genetics, University of Manchester, St. Mary's Hospital, Manchester M13 9PL, UK."},{"name":"Eastman Dental Institute, University College London, London WC1E 6BT, UK."},{"name":"Institute of Child Health, University College London, London WC1E 6BT, UK."},{"name":"National Cancer Institute, Bethesda, MD 20892, USA."},{"name":"Churchill Hospital, Oxford OX3 7LJ, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hammond","sequence":"additional","affiliation":[{"name":"Academic Unit of Medical Genetics, University of Manchester, St. Mary's Hospital, Manchester M13 9PL, UK."},{"name":"Eastman Dental Institute, University College London, London WC1E 6BT, UK."},{"name":"Institute of Child Health, University College London, London WC1E 6BT, UK."},{"name":"National Cancer Institute, Bethesda, MD 20892, USA."},{"name":"Churchill Hospital, Oxford OX3 7LJ, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Karmiloff-Smith","sequence":"additional","affiliation":[{"name":"Academic Unit of Medical Genetics, University of Manchester, St. Mary's Hospital, Manchester M13 9PL, UK."},{"name":"Eastman Dental Institute, University College London, London WC1E 6BT, UK."},{"name":"Institute of Child Health, University College London, London WC1E 6BT, UK."},{"name":"National Cancer Institute, 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