PAX2
MIM.167409 10q24.3-q25.1
germline mutations of APX2 in
- papillorenal syndrome (renal-coloboma syndrome) (MIM.120330)
- isolated renal hypoplasia
- optic disk dysplasia
- bilateral colobomatous disk anomaly
- foveal hypoplasia
- pigmented macular atrophy
References
Kozmik Z. Pax genes in eye development and evolution. Curr Opin Genet Dev. 2005 Aug;15(4):430-8. PMID: #15950457#
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