{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:53:48Z","timestamp":1777884828018,"version":"3.51.4"},"reference-count":13,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:p>Cardiofaciocutaneous (CFC) syndrome is a RASopathy phenotypically characterized by facial, cardiac, and ectodermal abnormalities. The extent to which this phenotype is expressed in the affected fetus is unclear, and a better understanding of the fetal autopsy findings in CFC syndrome could facilitate diagnosis and understanding of the developmental effects of dysregulated BRAF activity. Here we describe the fetal autopsy findings in a case of CFC syndrome in a 17-week fetus with a novel BRAF mutation that demonstrates potential similarities and differences with the postnatal presentation of CFC syndrome.<\/jats:p>","DOI":"10.2350\/13-08-1365-cr.1","type":"journal-article","created":{"date-parts":[[2013,12,4]],"date-time":"2013-12-04T20:22:58Z","timestamp":1386188578000},"page":"59-63","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique\n                    <i>BRAF<\/i>\n                    Mutation"],"prefix":"10.1177","volume":"17","author":[{"given":"Jefferson","family":"Terry","sequence":"first","affiliation":[{"name":"Department of Pathology and Molecular Medicine, McMaster Children's Hospital, 1200 Main Street West, Hamilton, ON, L8N 3Z5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine A.","family":"Rauen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco, Helen Diller Family Comprehensive Cancer Center, 2340 Sutter Street, Room S429 Box 0706, San Francisco, CA, 94115, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malgorzata J. M.","family":"Nowaczyk","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, McMaster Children's Hospital, 1200 Main Street West, Hamilton, ON, L8N 3Z5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2015,12,1]]},"reference":[{"key":"bibr1-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399408000902"},{"key":"bibr2-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124642"},{"key":"bibr3-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1749"},{"key":"bibr4-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-002-1117-3"},{"key":"bibr5-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-004-1117-6"},{"key":"bibr6-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30834"},{"key":"bibr7-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33342"},{"key":"bibr8-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054460"},{"key":"bibr9-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1891"},{"key":"bibr10-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30295"},{"key":"bibr11-13-08-1365-CR.1","first-page":"521","volume":"164","author":"Siegel DH","year":"2011","journal-title":"Br J Dermatol"},{"key":"bibr12-13-08-1365-CR.1","volume-title":"Pathology of the Fetus and Infant","author":"Potter E","year":"1975","edition":"3"},{"key":"bibr13-13-08-1365-CR.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050450"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2350\/13-08-1365-CR.1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.2350\/13-08-1365-CR.1","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2350\/13-08-1365-CR.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T02:39:53Z","timestamp":1777603193000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.2350\/13-08-1365-CR.1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.2350\/13-08-1365-CR.1"],"URL":"https:\/\/doi.org\/10.2350\/13-08-1365-cr.1","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1]]}}}