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The purpose of this investigation was to search for variants that cause adult\u2010onset primary lymphedema. We discovered an autosomal dominant <jats:italic>EPHB4<\/jats:italic> mutation in a patient who developed unilateral leg lymphedema at age 39\u2009years; the same mutation affected his son who presented with the disease at 14\u2009years of age.<\/jats:p>","DOI":"10.1002\/ajmg.a.62416","type":"journal-article","created":{"date-parts":[[2021,7,7]],"date-time":"2021-07-07T07:55:18Z","timestamp":1625644518000},"page":"3810-3813","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["<scp><i>EPHB4<\/i><\/scp> mutation causes adult and adolescent\u2010onset primary lymphedema"],"prefix":"10.1002","volume":"185","author":[{"given":"Arin K.","family":"Greene","sequence":"first","affiliation":[{"name":"Department of Plastic and Oral Surgery, Lymphedema Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9548-8229","authenticated-orcid":false,"given":"Pascal","family":"Brouillard","sequence":"additional","affiliation":[{"name":"de Duve Institute, University of Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1254-3312","authenticated-orcid":false,"given":"Christopher L.","family":"Sudduth","sequence":"additional","affiliation":[{"name":"Department of Plastic and Oral Surgery, Lymphedema Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick J.","family":"Smits","sequence":"additional","affiliation":[{"name":"Department of Plastic and Oral Surgery, Lymphedema Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dennis J.","family":"Konczyk","sequence":"additional","affiliation":[{"name":"Department of Plastic and Oral Surgery, Lymphedema Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miikka","family":"Vikkula","sequence":"additional","affiliation":[{"name":"de Duve Institute, University of Louvain  Brussels Belgium"},{"name":"WELBIO (Walloon Excellence in Lifesciences and Biotechnology), de Duve Institute, University of Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx297"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-12-297317"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1089\/lrb.2018.0032"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e3182365c91"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GOX.0000000000001396"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.18004518902"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aax8013"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy218"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61269"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI85794"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000354097"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e318213a218"},{"issue":"2","key":"e_1_2_7_15_1","first-page":"206","article-title":"Primary lymphedema in children and adolescents: A follow\u2010up study and review","volume":"76","author":"Smeltzer D. 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