{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T12:30:30Z","timestamp":1792672230265,"version":"4.5.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,25]],"date-time":"2018-01-25T00:00:00Z","timestamp":1516838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:p>We report on a girl, born to first cousin Lebanese parents, with intellectual disability, seizures, repeated gingivorrhagia, enlarged lower and upper jaws, overgrowth of the gums, high arched and narrow palate, crowded teeth, hirsutism of the back, large abdomen and a small umbilical hernia. Cysts of the mandible, fibrous dysplasia of bones, and enlarged adenoids causing around 60% narrowing of the nasopharyngeal airways were noted at radiographic examination. Her brother presented with the same features in addition to a short stature, an ostium secundum, and more pronounced intellectual disability. He died at the age of 8\u2009years from a severe pulmonary infection and repeated bleeding episodes. A clinical diagnosis of Ramon syndrome was made.<\/jats:p><jats:p>Whole exome sequencing studies performed on the family revealed the presence of a novel homozygous missense mutation in <jats:italic>ELMO2<\/jats:italic> gene, p.I606S in the affected individuals. Loss of function mutations in <jats:italic>ELMO2<\/jats:italic> have been recently described in another clinically distinct condition: primary intraosseous vascular malformation or intraosseous hemangioma, called VMOS. Review of the literature and differential diagnoses are discussed.<\/jats:p>","DOI":"10.1111\/cge.13166","type":"journal-article","created":{"date-parts":[[2017,11,2]],"date-time":"2017-11-02T16:50:50Z","timestamp":1509641450000},"page":"703-706","source":"Crossref","is-referenced-by-count":20,"title":["Homozygous mutation in <i>ELMO2<\/i> may cause Ramon syndrome"],"prefix":"10.1111","volume":"93","author":[{"given":"C.","family":"Mehawej","sequence":"first","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tiqueM\u00e9dicale, Facult\u00e9 de M\u00e9decine Universit\u00e9 Saint\u2010Joseph  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Hoischen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen the Netherlands"},{"name":"Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI) Radboud University Medical Center  Nijmegen the Netherlands"},{"name":"Radboud Institute for Molecular Life Sciences  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.A.","family":"Farah","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology, Department of Pediatrics Saint George Hospital University Medical Center  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Marey","sequence":"additional","affiliation":[{"name":"Institut J\u00e9r\u00f4me Lejeune  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"David","sequence":"additional","affiliation":[{"name":"Institut J\u00e9r\u00f4me Lejeune  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Stora","sequence":"additional","affiliation":[{"name":"Institut J\u00e9r\u00f4me Lejeune  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Lachlan","sequence":"additional","affiliation":[{"name":"Human Genetics &amp; Genomic Medicine, Southampton General Hospital University of Southampton  Southampton UK"},{"name":"Wessex Clinical Genetics Service, Princess Anne Hospital University Hospital Southampton NHS Foundation Trust  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.G.","family":"Brunner","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen the Netherlands"},{"name":"Department of Clinical Genetics and GROW School for Oncology and Developmental Biology Maastricht UMC  Maastricht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0714-2469","authenticated-orcid":false,"given":"A.","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[{"name":"Institut J\u00e9r\u00f4me Lejeune  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(67)90416-1"},{"issue":"1","key":"e_1_2_5_3_1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1097\/00019605-199201000-00005","article-title":"Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs","volume":"1","author":"Pridmore C","year":"1992","journal-title":"Clin Dysmorphol"},{"issue":"1","key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<43::AID-AJMG10>3.0.CO;2-O","article-title":"Retinal changes and tumorigenesis in Ramon syndrome: follow\u2010up of a Brazilian family","volume":"77","author":"Pina\u2010Neto JM","year":"1998","journal-title":"Am J Med Genet"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1590"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.249"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/joim.12351"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.008"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10282"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01817"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201106138"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.458612"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e12-11-0782"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1063(2000)10:5<617::AID-HIPO13>3.0.CO;2-R"},{"issue":"10","key":"e_1_2_5_16_1","doi-asserted-by":"crossref","first-page":"6130","DOI":"10.1074\/jbc.M114.616680","article-title":"ClipR\u201059 interacts with Elmo2 and modulates myoblast fusion","volume":"290","author":"Sun Y","year":"2015","journal-title":"J Biol Chem"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13166","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13166","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T17:20:29Z","timestamp":1695662429000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13166"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,25]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["10.1111\/cge.13166"],"URL":"https:\/\/doi.org\/10.1111\/cge.13166","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,25]]}}}