{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:04:52Z","timestamp":1786118692025,"version":"build-2736575974"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,1]]},"DOI":"10.1097\/01.mcd.0000198929.24577.a5","type":"journal-article","created":{"date-parts":[[2006,12,8]],"date-time":"2006-12-08T04:11:30Z","timestamp":1165551090000},"page":"15-20","source":"Crossref","is-referenced-by-count":0,"title":["Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?"],"prefix":"10.1097","volume":"16","author":[{"given":"Jos\u00e9 El\u00edas","family":"Garc\u00eda-Ortiz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Garc\u00eda-Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid Patricia","family":"D\u00e1valos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zamira","family":"Nazar\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Olga","family":"Garc\u00eda-Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00edctor","family":"Casta\u00f1eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonel","family":"Guti\u00e9rrez-Mendivil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose","family":"S\u00e1nchez-Corona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"issue":"(suppl.)","key":"R1-3-20211004","first-page":"A265","article-title":"Mapping of the second locus of postaxial polydactyly type A(PAP-A2) to chromosome 13q21\u2013q32 [abstract].","volume":"61","author":"Akarsu","year":"1997","journal-title":"Am J Hum Genet"},{"key":"R2-3-20211004","first-page":"93","article-title":"Polysyndactyly with complex cardiopathy. Apropos of 3 cases in the same family","volume":"31","author":"Bonneau","year":"1983","journal-title":"J Genet Hum"},{"key":"R3-3-20211004","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<459::AID-AJMG5>3.0.CO;2-G","article-title":"Associated anomalies in individuals with polydactyly","volume":"80","author":"Castilla","year":"1998","journal-title":"Am J Med Genet"},{"key":"R4-3-20211004","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/BF00207395","article-title":"Single atrium, atrioventricular canal\/postaxial hexodactyly indicating Ellis-van Creveld syndrome","volume":"96","author":"Digilio","year":"1995","journal-title":"Hum Genet"},{"key":"R5-3-20211004","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1007\/s002469900116","article-title":"Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman\u2013McKusick syndromes","volume":"18","author":"Digilio","year":"1997a","journal-title":"Pediatr Cardiol"},{"key":"R6-3-20211004","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/(SICI)1096-8628(19970110)68:1<110::AID-AJMG25>3.0.CO;2-W","article-title":"The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral\u2013facial\u2013digital syndromes","volume":"68","author":"Digilio","year":"1997b","journal-title":"Am J Med Genet"},{"key":"R7-3-20211004","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1038\/sj.ejhg.5200982","article-title":"A new locus for postaxial polydactyly type A\/B on chromosome 7q21\u2013q34","volume":"11","author":"Galjaard","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"R8-3-20211004","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1007\/BF00795716","article-title":"Atrioventricular septal defects and type A postaxial polydactyly without other major associated anomalies: a specific association","volume":"16","author":"Levin","year":"1995","journal-title":"Pediatr Cardiol"},{"key":"R9-3-20211004","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<378::AID-AJMG7>3.0.CO;2-A","article-title":"Cardiac anomalies in the Simpson\u2013Golabi\u2013Behmel syndrome","volume":"83","author":"Lin","year":"1999","journal-title":"Am J Med Genet"},{"key":"R10-3-20211004","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1136\/jmg.18.2.151","article-title":"A new probable autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly","volume":"18","author":"Martinez y Martinez","year":"1981","journal-title":"J Med Genet"},{"key":"R11-3-20211004","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1002\/ajmg.1320350310","article-title":"Oral\u2013facial\u2013digital syndrome type VI (Varadi syndrome): further clinical delineation","volume":"35","author":"Muenke","year":"1990","journal-title":"Am J Med Genet"},{"key":"R12-3-20211004","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<279::AID-AJMG9>3.0.CO;2-H","article-title":"Clinical and molecular aspects of the Simpson\u2013Golabi\u2013Behmel syndrome","volume":"79","author":"Neri","year":"1998","journal-title":"Am J Med Genet"},{"key":"R13-3-20211004","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1007\/BF02272854","article-title":"Post-axial hexodactyly and single atrium: a new syndrome?","volume":"94","author":"Onat","year":"1994","journal-title":"Hum Genet"},{"key":"R14-3-20211004","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1007\/s002469900350","article-title":"Syndrome of hexadactyly and single atrium","volume":"19","author":"Onat","year":"1998","journal-title":"Pediatr Cardiol"},{"key":"R16-3-20211004","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng0396-241","article-title":"Mutations in GPC3, a glypican gene, cause the Simpson\u2013Golabi\u2013Behmel overgrowth syndrome","volume":"12","author":"Pilia","year":"1996","journal-title":"Nat Genet"},{"key":"R17-3-20211004","first-page":"597","article-title":"Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15\u2013q11.23 by linkage analysis","volume":"60","author":"Radhakrishna","year":"1997","journal-title":"Am J Hum Genet"},{"key":"R18-3-20211004","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1038\/73508","article-title":"Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis","volume":"24","author":"Ruiz-Perez","year":"2000","journal-title":"Nat Genet"},{"key":"R19-3-20211004","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1086\/368063","article-title":"Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome","volume":"72","author":"Ruiz-Perez","year":"2003","journal-title":"Am J Hum Genet"},{"key":"R20-3-20211004","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/75637","article-title":"Mutation of a gene encoding a putative chaperonin causes McKusick\u2013Kaufman syndrome","volume":"25","author":"Stone","year":"2000","journal-title":"Nat Genet"},{"key":"R21-3-20211004","first-page":"366","article-title":"The genetics of hand malformations","author":"Temtamy","year":"1978."},{"key":"R22-3-20211004","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1038\/sj.ejhg.5200790","article-title":"Postaxial polydactyly type A\/B (PAP-A\/B) is linked to chromosome 19p13.1\u201313.2 in a Chinese kindred","volume":"10","author":"Zhao","year":"2002","journal-title":"Eur J Hum Genet"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00019605-200701000-00003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T16:20:20Z","timestamp":1786033220000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00019605-200701000-00003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007]]}},"URL":"https:\/\/doi.org\/10.1097\/01.mcd.0000198929.24577.a5","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2007,1]]}}}