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
Research output: Contribution to journal › Article › peer-review
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