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PedAM

Pediatric Disease Annotations & Medicines




Disease rubinstein-taybi syndrome
Phenotype C0730290|cone dystrophy
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PubMedID- 23922782 Such studies are important for understanding the rod/cone dystrophy phenotypes of rubinstein-taybi syndrome (rsts) [40], a disease associated with heterozygous cbp[33] or ep300 mutations [34].

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