developmental stage:Mainly in fetal kidney and juvenile nephrogenic rests.,disease:Defects in PAX2 are the cause of renal-coloboma syndrome (RCS) [MIM:120330]; also known as papillorenal syndrome or optic nerve coloboma with renal disease. RCS is an autosomal dominant disease characterized by the association of renal hypoplasia, vesicoureteral reflux and dysplasia of the retina and optic disk.,disease:Defects in PAX2 may be responsible for isolated renal hypoplasia as observed in oligomeganephronia (OMN). OMN is a rare congenital and usually sporadic anomaly characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons and without urinary tract abnormalities.,function:Probable transcription factor that may have a role in kidney cell differentiation. Has a critical role in the development of the urogenital tract, the eyes, and the CNS.,similarity:Contains 1 paire

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