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PedAM

Pediatric Disease Annotations & Medicines




Disease porphyria
Phenotype C0162568|erythropoietic protoporphyria
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PubMedID- 22766189 In recent years, important advances have been made in our understanding of the genetics of porphyrias, particularly with respect to erythropoietic protoporphyria (epp) and congenital erythropoietic porphyria (cep), 2 forms of erythropoietic porphyria no longer considered to be monogenic.

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