{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:29:08Z","timestamp":1787315348091,"version":"build-2736575974"},"reference-count":27,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1016\/j.ejmg.2018.02.006","type":"journal-article","created":{"date-parts":[[2018,2,12]],"date-time":"2018-02-12T12:53:36Z","timestamp":1518440016000},"page":"411-415","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome"],"prefix":"10.1016","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4133-714X","authenticated-orcid":false,"given":"Marta","family":"Unolt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Barry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Marino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Bassett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwin","family":"Oechslin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W.","family":"Low","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean B.","family":"Belasco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Staci","family":"Kallish","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Sullivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"McDonald\u2013McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2018.02.006_bib1","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1002\/ajmg.1320560116","article-title":"Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications","volume":"56","author":"Andersson","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib2","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1136\/jmedgenet-2013-102020","article-title":"A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease","volume":"51","author":"Balboa\u2013Beltran","year":"2014","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib3","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1136\/jmg.2004.024802","article-title":"Milroy disease and the VEGFR-3 mutation phenotype","volume":"42","author":"Brice","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib4","doi-asserted-by":"crossref","first-page":"1212","DOI":"10.1002\/ajmg.a.31703","article-title":"A novel VEGFR3 mutation causes Milroy disease","volume":"143A","author":"Butler","year":"2007","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib5","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1083\/jcb.200912037","article-title":"Tbx1 regulates Vegfr3 and is required for lymphatic vessel development","volume":"189","author":"Chen","year":"2010","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ejmg.2018.02.006_bib6","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1111\/cge.12173","article-title":"The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings","volume":"84","author":"Connell","year":"2013","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib7","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1136\/jmg.40.9.697","article-title":"Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema","volume":"40","author":"Evans","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib8","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1089\/lrb.2007.1022","article-title":"Candidate gene analysis in primary lymphedema","volume":"6","author":"Ferrell","year":"2008","journal-title":"Lymphatic Res. Biol."},{"key":"10.1016\/j.ejmg.2018.02.006_bib9","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1093\/hmg\/10.11.1185","article-title":"Truncating mutations in FOXC2 cause multiple lymphedema syndromes","volume":"10","author":"Finegold","year":"2001","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2018.02.006_bib10","first-page":"146","article-title":"The transcriptional control of lymphatic vascular development","volume":"26","author":"Francois","year":"2011","journal-title":"Physiology (Bethesda)"},{"key":"10.1016\/j.ejmg.2018.02.006_bib11","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1136\/jmg.2008.064469","article-title":"Recessive primary congenital lymphoedema caused by a VEGFR3 mutation","volume":"46","author":"Ghalamkarpour","year":"2009","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib12","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1161\/CIRCRESAHA.113.300350","article-title":"Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant Milroy-like primary lymphedema","volume":"112","author":"Gordon","year":"2013","journal-title":"Circ. Res."},{"key":"10.1016\/j.ejmg.2018.02.006_bib13","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1086\/303019","article-title":"Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase","volume":"67","author":"Irrthum","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib14","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/75997","article-title":"Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema","volume":"25","author":"Karkkainen","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib15","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1034\/j.1399-0004.2003.00152.x","article-title":"Molecular mechanisms in lymphangiogenesis: model systems and implications in human disease","volume":"64","author":"Kim","year":"2003","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib16","article-title":"The 22q11.2 deletion syndrome: cancer predisposition, platelet abnormalities and cytopenias","author":"Lambert","year":"2017","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib17","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/84651","article-title":"Inhibition of lymphangiogenesis with resulting lymphedema in transgenic mice expressing soluble VEGF receptor-3","volume":"7","author":"M\u00e4kinen","year":"2001","journal-title":"Nat. Med."},{"key":"10.1016\/j.ejmg.2018.02.006_bib18","first-page":"67","article-title":"Abdominal lymphatic dysplasia and 22q11 microdeletion","volume":"10","author":"Mansir","year":"1999","journal-title":"Genet. Counsel."},{"key":"10.1016\/j.ejmg.2018.02.006_bib19","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1002\/ajmg.a.31199","article-title":"Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome)","volume":"140","author":"McDonald\u2013McGinn","year":"2006","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib20","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 Deletion syndrome","volume":"1","author":"McDonald\u2013McGinn","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.ejmg.2018.02.006_bib21","first-page":"293","article-title":"Malignant tumors as complications of lymphedema","volume":"18","author":"Peyron","year":"1993","journal-title":"J. Mal. Vasc."},{"key":"10.1016\/j.ejmg.2018.02.006_bib22","doi-asserted-by":"crossref","first-page":"2856","DOI":"10.1161\/CIRCULATIONAHA.109.853127","article-title":"Preeclampsia, a disease of the maternal endothelium: the role of antiangiogenic factors and implications for later cardiovascular disease","volume":"123","author":"Powe","year":"2011","journal-title":"Circulation"},{"key":"10.1016\/j.ejmg.2018.02.006_bib23","doi-asserted-by":"crossref","first-page":"135","DOI":"10.2174\/1871530315666150316121956","article-title":"VEGF-VEGFR system as a target for suppressing inflammation and other diseases","volume":"15","author":"Shibuya","year":"2015","journal-title":"Endocr. Metab. Immune Disord. - Drug Targets"},{"key":"10.1016\/j.ejmg.2018.02.006_bib24","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1007\/s10038-006-0031-3","article-title":"Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3","volume":"51","author":"Spiegel","year":"2006","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.02.006_bib25","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1177\/1358836X9800300209","article-title":"Lymphedema: classification, diagnosis and therapy","volume":"3","author":"Szuba","year":"1998","journal-title":"Vasc. Med."},{"key":"10.1016\/j.ejmg.2018.02.006_bib26","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1097\/01.sap.0000257149.42922.7e","article-title":"Lymphedema: a comprehensive review","volume":"59","author":"Warren","year":"2007","journal-title":"Ann. Plast. Surg."},{"key":"10.1016\/j.ejmg.2018.02.006_bib27","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/j.bpobgyn.2011.02.007","article-title":"The genetics of pre-eclampsia and other hypertensive disorders of pregnancy","volume":"25","author":"Williams","year":"2011","journal-title":"Best Pract. Res. Clin. Obstet. Gynaecol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121730681X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121730681X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:45:29Z","timestamp":1761709529000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972121730681X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":27,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["S176972121730681X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.02.006","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.02.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}