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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome

  • Lisa A. Schimmenti
  • , Heather H. Shim
  • , Jonathan D. Wirtschafter
  • , Valerie A. Panzarino
  • , Clifford E. Kashtan
  • , Susan J. Kirkpatrick
  • , David S. Wargowski
  • , Thomas D. France
  • , Eduard Michel
  • , William B. Dobyns

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Pharmacology, Toxicology and Pharmaceutical Science

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Biochemistry, Genetics and Molecular Biology