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Whole exome sequencing of DNA from a 1 day old deceased newborn, with severe diffuse developmental lung disorder exhibiting features of acinar dysplasia, and her unaffected parents identified a de novo\n                      <jats:italic>TBX4<\/jats:italic>\n                      missense mutation p.E86Q (c.256G&gt;C) in the DNA\u2010binding T\u2010box domain. We propose phenotypic expansion of the\n                      <jats:italic>TBX4<\/jats:italic>\n                      \u2010related clinical disease spectrum to include acinar dysplasia of the lungs. The reported mutation is the first identified genetic variant causative for acinar dysplasia. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37822","type":"journal-article","created":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T06:30:21Z","timestamp":1467613821000},"page":"2440-2444","source":"Crossref","is-referenced-by-count":68,"title":["Phenotypic expansion of\n                    <i>TBX4<\/i>\n                    mutations to include acinar dysplasia of the lungs"],"prefix":"10.1002","volume":"170","author":[{"given":"Przemyslaw","family":"Szafranski","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep H.","family":"Coban\u2010Akdemir","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine 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