Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: Further ophthalmologic delineation of the renal-coloboma syndrome
Source: Ophthalmic Genetics
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations
Source: American Journal of Human Genetics
Renal Coloboma Syndrome-An Autosomal Dominant Genetic Disorder
Source: Indian Journal of Radiology and Imaging
Renal-coloboma syndrome: A multi-system developmental disorder caused by PAX2 mutations
Source: Clinical Genetics
Association between Graves' disease and renal coloboma syndrome: A case report
Source: Clinical Pediatric Endocrinology
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