{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T23:42:46Z","timestamp":1787701366558,"version":"build-2784847793"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T00:00:00Z","timestamp":1424217600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Abraham & Sonia Rochlin Family Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mutations in genes encoding the origin recognition complex subunits cause Meier\u2013Gorlin syndrome. The disease manifests a triad of short stature, small ears, and small and\/or absent patellae with variable expressivity. We report on the identification of a homozygous deleterious mutation in the <jats:italic>ORC6<\/jats:italic> gene in previously described fetuses at the severe end of the Meier\u2013Gorlin spectrum. The phenotype included severe intrauterine growth retardation, dislocation of knees, gracile bones, clubfeet, and small mandible and chest. To date, the clinical presentation of <jats:italic>ORC6<\/jats:italic>\u2010associated Meier\u2013Gorlin syndrome has been mild compared to other the phenotype associated with other loci. The present report expands the clinical phenotype associated with <jats:italic>ORC6<\/jats:italic> mutations to include severely abnormal embryological development suggesting a possible genotype\u2013phenotype correlation. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36906","type":"journal-article","created":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T06:39:36Z","timestamp":1424241576000},"page":"607-611","source":"Crossref","is-referenced-by-count":14,"title":["Further insight into the phenotype associated with a mutation in the <i>ORC6<\/i> gene, causing Meier\u2013Gorlin syndrome 3"],"prefix":"10.1002","volume":"167","author":[{"given":"Stavit Allon","family":"Shalev","sequence":"first","affiliation":[{"name":"Genetics Institute Ha'Emek Medical center Afula Israel"},{"name":"Rappaport Faculty of Medicine Technion \u2013 Israel Institute of Technology Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morad","family":"Khayat","sequence":"additional","affiliation":[{"name":"Rappaport Faculty of Medicine Technion \u2013 Israel Institute of Technology Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel\u2010Spiegl","family":"Etty","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Ha'emek Medical Center Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Elpeleg","sequence":"additional","affiliation":[{"name":"The Monique and Jacques Roboh Department of Genetic Research Hadassah \u2013 Hebrew University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0902670106"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1452"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.775"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.269"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006069200"},{"key":"e_1_2_7_7_1","first-page":"184","article-title":"Clinical identification of a human equivalent to the short ear (se) murine phenotype","volume":"37","author":"Lacombe D","year":"1994","journal-title":"Ann Genet"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1072802"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31580"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200307000-00003"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-011-0675-9"},{"key":"e_1_2_7_13_1","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.1101\/gad.14.14.1765","article-title":"Drosophila double parked: A conserved, essential replication protein that colocalizes with the origin recognition complex and links dna replication with mitosis and the down regulation of s phase transcripts","volume":"14","author":"Whittaker AJ","year":"2000","journal-title":"Genes Dev"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36906","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36906","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:49:41Z","timestamp":1696618181000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,18]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1002\/ajmg.a.36906"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36906","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,18]]}}}