{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T21:11:53Z","timestamp":1791666713417,"version":"4.3.4"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T00:00:00Z","timestamp":1581897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ectodermal dysplasias are a family of genodermatoses commonly associated with variants in the ectodysplasin\/NF\u2010\u03baB or the Wnt\/\u03b2\u2010catenin pathways. Both pathways are involved in signal transduction from ectoderm to mesenchyme during the development of ectoderm\u2010derived structures. Wnt\/\u03b2\u2010catenin pathway requires the lymphoid enhancer\u2010binding factor 1 (LEF1), a nuclear mediator, to activate target gene expression. In mice, targeted inactivation of the\n                    <jats:italic>LEF1<\/jats:italic>\n                    gene results in a complete block of development of multiple ectodermal appendages. We report two unrelated patients with 4q25 de novo deletion encompassing\n                    <jats:italic>LEF1<\/jats:italic>\n                    , associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. Taurodontism and a particular alveolar bone defect were also observed in both patients. So far, no pathogenic variants or variations involving the\n                    <jats:italic>LEF1<\/jats:italic>\n                    gene have been reported in human. We provide further evidence for\n                    <jats:italic>LEF1<\/jats:italic>\n                    haploinsufficiency role in ectodermal dysplasia and delineate its clinical phenotype.\n                  <\/jats:p>","DOI":"10.1111\/cge.13714","type":"journal-article","created":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T10:35:37Z","timestamp":1580898937000},"page":"595-600","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["<i>LEF1<\/i>\n                    haploinsufficiency causes ectodermal dysplasia"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8822-816X","authenticated-orcid":false,"given":"Jonathan","family":"L\u00e9vy","sequence":"first","affiliation":[{"name":"Genetics Department AP\u2010HP, Robert\u2010Debr\u00e9 University Hospital  Paris 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Pasteur Institute  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Bailleul\u2010Forestier","sequence":"additional","affiliation":[{"name":"Department of Paediatric Dentistry Rare Oral and Dental Competence Center, CHU Toulouse, Paul Sabatier University  Toulouse 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