{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:31:17Z","timestamp":1777937477748,"version":"3.51.4"},"reference-count":24,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2018,9,7]],"date-time":"2018-09-07T00:00:00Z","timestamp":1536278400000},"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":[[2019,3]]},"abstract":"<jats:p>We report a male fetus with a 6.8\u2009Mb deletion on chromosome 7p22.1p22.3 at 16 weeks of gestation. The fetus presented a heart-hand syndrome with great artery malposition, bilateral radial ray deficiency, a single pelvic kidney, and growth retardation. This deletion involves a minimal deleted region for cardiac malformation and the RAC1 gene, previously described in limb anomalies in mice. This fetus is the third human case with limb defects and RAC1 deletion.<\/jats:p>","DOI":"10.1177\/1093526618799293","type":"journal-article","created":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T00:20:07Z","timestamp":1536366007000},"page":"146-151","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus"],"prefix":"10.1177","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7596-4686","authenticated-orcid":false,"given":"Aude","family":"Tessier","sequence":"first","affiliation":[{"name":"Inserm U1079, Centre Normand de G\u00e9nomique M\u00e9dicale et M\u00e9decine Personnalis\u00e9e et Service de G\u00e9n\u00e9tique, CHU Charles Nicolle, Rouen, France"},{"name":"Service d\u2019anatomopathologie, CHU Charles Nicolle, Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Callier","sequence":"additional","affiliation":[{"name":"Service de Cytog\u00e9n\u00e9tique, Pole Technique et Biologie, CHU Dijon, Dijon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"LeMeur","sequence":"additional","affiliation":[{"name":"Inserm U1079, Centre Normand de G\u00e9nomique M\u00e9dicale et M\u00e9decine Personnalis\u00e9e et Service de G\u00e9n\u00e9tique, CHU Charles Nicolle, Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Frebourg","sequence":"additional","affiliation":[{"name":"Inserm U1079, Centre Normand de G\u00e9nomique M\u00e9dicale et M\u00e9decine Personnalis\u00e9e et Service de G\u00e9n\u00e9tique, CHU Charles Nicolle, Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Christophe","family":"Sabourin","sequence":"additional","affiliation":[{"name":"Service d\u2019anatomopathologie, CHU Charles Nicolle, Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Patrier","sequence":"additional","affiliation":[{"name":"Service d\u2019anatomopathologie, CHU Charles Nicolle, Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2018,9,7]]},"reference":[{"issue":"2","key":"bibr1-1093526618799293","first-page":"223","volume":"24","author":"Stoll C","year":"2013","journal-title":"Genet Couns Geneva Switz"},{"key":"bibr2-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-21"},{"key":"bibr3-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1038\/ng1707"},{"key":"bibr4-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4592"},{"key":"bibr5-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.025478"},{"key":"bibr6-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34041"},{"key":"bibr7-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.8.528"},{"key":"bibr8-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e3181ebcc9c"},{"key":"bibr9-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282559"},{"key":"bibr10-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36242"},{"key":"bibr11-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002843"},{"key":"bibr12-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a003172"},{"key":"bibr13-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.01.010"},{"key":"bibr14-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0090818"},{"key":"bibr15-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0151154"},{"key":"bibr16-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2009.09.076"},{"key":"bibr17-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.09.014"},{"key":"bibr18-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.01.052"},{"key":"bibr19-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.120"},{"key":"bibr20-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37550"},{"key":"bibr21-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.013"},{"key":"bibr22-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36715"},{"key":"bibr23-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35300"},{"key":"bibr24-1093526618799293","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36566"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526618799293","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1093526618799293","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526618799293","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:05:05Z","timestamp":1777694705000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1093526618799293"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,7]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["10.1177\/1093526618799293"],"URL":"https:\/\/doi.org\/10.1177\/1093526618799293","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,7]]}}}