Authors: Chung, GW Edwards, AO Schimmenti, LA Manligas, GS Zhang, YH Ritter, R

Citation: Gw. Chung et al., Renal-coloboma syndrome: Report of a novel PAX2 gene mutation, AM J OPHTH, 132(6), 2001, pp. 910-914

Authors: Shim, HH Nakamura, BN Cantor, RM Schimmenti, LA

Citation: Hh. Shim et al., Identification of two single nucleotide polymorphisms in exon 8 of PAX2, MOL GEN MET, 68(4), 1999, pp. 507-510

Authors: Schimmenti, LA Shim, HH Wirtschafter, JD Panzarino, VA Kashtan, CE Kirkpatrick, SJ Wargowski, DS France, TD Michel, E Dobyns, WB

Citation: La. Schimmenti et al., Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome, HUM MUTAT, 14(5), 1999, pp. 369-376

Authors: Eccles, MR Schimmenti, LA

Citation: Mr. Eccles et La. Schimmenti, Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations, CLIN GENET, 56(1), 1999, pp. 1-9