Renal-coloboma syndrome
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Renal-coloboma syndrome is an autosomal dominant genetic disease marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve.[1] The syndrome results from mutation of a copy of the PAX2 gene, a gene which is important in the development of both the eye and the kidney.
[edit] References
- ^ Mendelian Inheritance in Man (OMIM) 167409
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