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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

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Biochemistry, Genetics and Molecular Biology