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 Kashtan, Susan J. Kirkpatrick, David S. Wargowski, Thomas D. France, Eduard Michel, William B. Dobyns

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43 Scopus citations

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Medicine & Life Sciences