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We conclude that the association of optic nerve colobomas, renal anomalies, and vesicoureteral reflux comprises a unique autosomal dominant syndrome. Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the <jats:italic>PAX2<\/jats:italic> gene. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590217","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:12:23Z","timestamp":1118513543000},"page":"204-208","source":"Crossref","is-referenced-by-count":46,"title":["Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies"],"prefix":"10.1002","volume":"59","author":[{"given":"Lisa A.","family":"Schimmenti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Ella","family":"Pierpont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Becky L. 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