{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:01:31Z","timestamp":1787169691466,"version":"build-2736575974"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T00:00:00Z","timestamp":1367280000000},"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":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Acrocallosal syndrome is characterized by postaxial polydactyly, macrocephaly, agenesis of the corpus callosum, and severe developmental delay. In a few patients with this disorder, a mutation in the\n                      <jats:italic>KIF7<\/jats:italic>\n                      gene has been reported, which was associated with impaired GLI3 processing and dysregulaton of GLI3 transcription factors. A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous\n                      <jats:italic>GLI3<\/jats:italic>\n                      mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister\u2013Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral\u2013facial\u2010digital syndrome, and non\u2010syndromic polydactyly. Here, we describe a second patient with acrocallosal syndrome, who has a de novo, novel c.2786T\u2009&gt;\u2009C mutation in\n                      <jats:italic>GLI3<\/jats:italic>\n                      , which predicts p.Leu929Pro. This mutation is in the same domain as the mutation in the previously reported patient. These data confirm that mutations in\n                      <jats:italic>GLI3<\/jats:italic>\n                      are a cause of the acrocallosal phenotype. \u00a9 2013 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.35874","type":"journal-article","created":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T13:29:21Z","timestamp":1367328561000},"page":"1394-1400","source":"Crossref","is-referenced-by-count":23,"title":["A de novo\n                    <scp>\n                      <i>GLI<\/i>\n                    <\/scp>\n                    <i>3<\/i>\n                    mutation in a patient with acrocallosal syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Leonie","family":"Speksnijder","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Titia E.","family":"Cohen\u2010Overbeek","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten F.C.M.","family":"Knapen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone M.","family":"Lunshof","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Amphia Hospital Breda The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Jeannette M.","family":"Hoogeboom","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ans M.","family":"van den Ouwenland","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irenaneus F.M.","family":"de Coo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten H.","family":"Lequin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanno 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Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02723748"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320306"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<231::AID-AJMG15>3.0.CO;2-W"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970303)69:1<17::AID-AJMG4>3.0.CO;2-Q"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI43639"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.804"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0249-y"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02026715"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200410000-00008"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360331"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350325"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/429346"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20318"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21328"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1769"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0397-266"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10236"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0007471"},{"key":"e_1_2_6_20_1","first-page":"239","article-title":"Schinzel 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