{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T21:45:26Z","timestamp":1767649526753,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:p>Acrocallosal syndrome (ACS) is characterised by postaxial polydactyly, hallux duplication, macrocephaly, and absence of the corpus callosum, usually with severe developmental delay. The condition overlaps with Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominant disorder that results from mutations in the <jats:italic>GLI3<\/jats:italic> gene. Here we report a child with agenesis of the corpus callosum and severe retardation, both cardinal features of ACS and rare in GCPS, who has a mutation in <jats:italic>GLI3<\/jats:italic>.<\/jats:p>\n               <jats:p>Since others have excluded <jats:italic>GLI3<\/jats:italic> in ACS, we suggest that ACS may represent a heterogeneous group of disorders that, in some cases, may result from a mutation in <jats:italic>GLI3<\/jats:italic> and represent a severe, allelic form of GCPS. The finding is important for counselling families with suspected ACS.<\/jats:p>","DOI":"10.1136\/jmg.39.11.804","type":"journal-article","created":{"date-parts":[[2002,11,1]],"date-time":"2002-11-01T16:04:21Z","timestamp":1036166661000},"page":"804-806","source":"Crossref","is-referenced-by-count":72,"title":["De novo <i>GLI3<\/i> mutation in acrocallosal syndrome: broadening the phenotypic spectrum of <i>GLI3<\/i> defects and overlap with murine models"],"prefix":"10.1136","volume":"39","author":[{"given":"E","family":"Elson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Perveen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Wall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G C M","family":"Black","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2002,11,1]]},"reference":[{"key":"2025101800303976000_39.11.804.1","first-page":"141","volume":"34","year":"1979","journal-title":"Helv Paediatr Acta"},{"key":"2025101800303976000_39.11.804.2","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1007\/BF00442226","volume":"147","year":"1988","journal-title":"Eur J Pediatr"},{"doi-asserted-by":"publisher","key":"2025101800303976000_39.11.804.3","DOI":"10.1086\/302557"},{"doi-asserted-by":"publisher","key":"2025101800303976000_39.11.804.4","DOI":"10.1093\/hmg\/8.9.1769"},{"doi-asserted-by":"publisher","key":"2025101800303976000_39.11.804.5","DOI":"10.1093\/hmg\/6.11.1979"},{"key":"2025101800303976000_39.11.804.6","first-page":"492","volume":"22","year":"1997","journal-title":"J Hand Surg Am"},{"doi-asserted-by":"publisher","key":"2025101800303976000_39.11.804.7","DOI":"10.1136\/jmg.29.9.635"},{"key":"2025101800303976000_39.11.804.8","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/ajmg.1443","volume":"102","year":"2001","journal-title":"Am J Med Genet"},{"key":"2025101800303976000_39.11.804.9","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/j.1399-0004.1997.tb02565.x","volume":"52","year":"1997","journal-title":"Clin Genet"},{"key":"2025101800303976000_39.11.804.10","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1002\/ajmg.1320350324","volume":"35","year":"1990","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.39.11.804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:30:50Z","timestamp":1760772650000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.39.11.804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,11]]},"references-count":10,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2002,11,1]]},"published-print":{"date-parts":[[2002,11]]}},"alternative-id":["10.1136\/jmg.39.11.804"],"URL":"https:\/\/doi.org\/10.1136\/jmg.39.11.804","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[2002,11]]}}}