Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome. - Farris J; Khanna C; Smadbeck JB; Johnson SH; Bothun E; Kaplan T; Hoffman F; Polonis K; Oliver G; Reis LM; Semina EV; Rust L; et al. (American journal of medical genetics. Part A, 2024)