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In contrast to heterozygous males, all heterozygous females showed LE during physical examination albeit variable in severity and age of onset. Lymphscintigraphy in affected females showed previously undescribed lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.<\/jats:p>","DOI":"10.1111\/cge.13622","type":"journal-article","created":{"date-parts":[[2019,8,12]],"date-time":"2019-08-12T12:14:51Z","timestamp":1565612091000},"page":"478-482","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Sex\u2010limited penetrance of lymphedema to females with <i>CELSR1<\/i> haploinsufficiency: A second family"],"prefix":"10.1111","volume":"96","author":[{"given":"Robert P.","family":"Erickson","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Arizona College of Medicine  Tucson Arizona"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li\u2010Wen","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Arizona College of Medicine  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