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We report on a tandem 4q31.23 triplication encompassing the <jats:italic>EDNRA<\/jats:italic> gene identified by array\u2010CGH in a male presenting an isolated left postero\u2010lateral CDH. This copy number variation was inherited from the asymptomatic father, carrier of a size\u2010identical duplication. We demonstrate that <jats:italic>EDNRA<\/jats:italic> mRNA is over\u2010expressed in the proband in blood tissue. Consistent with the expression of <jats:italic>EDNRA<\/jats:italic> in the developing diaphragm and the observation that the endothelin system is up\u2010regulated in human and animal models of CDH, we conclude that the <jats:italic>EDNRA<\/jats:italic> triplication may be the cause of CDH in our patient. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36216","type":"journal-article","created":{"date-parts":[[2013,11,21]],"date-time":"2013-11-21T21:32:24Z","timestamp":1385069544000},"page":"208-212","source":"Crossref","is-referenced-by-count":3,"title":["Pathogenesis of congenital diaphragmatic hernia: Additional clues regarding the involvement of the endothelin system"],"prefix":"10.1002","volume":"164","author":[{"given":"Violette","family":"Mesdag","sequence":"first","affiliation":[{"name":"Universit\u00e9 Lille Nord de France CHRU Lille France"},{"name":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique H\u00f4pital Jeanne de Flandre CHRU Lille 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