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PedAM

Pediatric Disease Annotations & Medicines




Disease n syndrome
Phenotype C0003076|aniridia
Sentences 2
PubMedID- 23761016 Wagr syndrome is a rare contiguous gene deletion syndrome, clinically associated with wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (fischbach et al.
PubMedID- 20485516 Other possible candidates are the type v collagen genes col5a1and col5a2 involved in ehlers-danlos syndrome (eds) [9], fibrillin-1 gene (fbn1) responsible for marfan syndrome [10], pax6 associated with aniridia [11] and foxc1 associated with abnormal ocular development [12].

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