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References

These sources were used to develop the Genetics Home Reference gene summary on the PAX2 gene.

Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Augé J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T. PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet. 2000 Nov;8(11):820-6. PubMed citation
Daniel L, Lechevallier E, Giorgi R, Sichez H, Zattara-Cannoni H, Figarella-Branger D, Coulange C. Pax-2 expression in adult renal tumors. Hum Pathol. 2001 Mar;32(3):282-7. PubMed citation
Eccles MR, He S, Legge M, Kumar R, Fox J, Zhou C, French M, Tsai RW. PAX genes in development and disease: the role of PAX2 in urogenital tract development. Int J Dev Biol. 2002;46(4):535-44. Review. PubMed citation
Entrez Gene
Gene Review: Renal Coloboma Syndrome
Muratovska A, Zhou C, He S, Goodyer P, Eccles MR. Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival. Oncogene. 2003 Sep 11;22(39):7989-97. PubMed citation
OMIM: PAIRED BOX GENE 2
Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet. 2003 Dec;24(4):191-202. PubMed citation

Reviewed: July 2008

Published: May 13, 2013