Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome

Joseph Farris, Cheryl Khanna, James B. Smadbeck, Sarah H. Johnson, Erick Bothun, Tyler Kaplan, Francis Hoffman, Katarzyna Polonis, Gavin Oliver, Linda M. Reis, Elena V. Semina, Laura Rust, Nicole L. Hoppman, George Vasmatzis, Cherisse A. Marcou, Lisa A. Schimmenti, Eric W. Klee