- Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Schimmenti, L.A., Shim, H.H., Wirtschafter, J.D., Panzarino, V.A., Kashtan, C.E., Kirkpatrick, S.J., Wargowski, D.S., France, T.D., Michel, E., Dobyns, W.B. Hum. Mutat. (1999)