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PedAM

Pediatric Disease Annotations & Medicines




Disease microphthalmia
Phenotype C0017601|glaucoma
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PubMedID- 21042563 In particular, mutations in several genes for transcription factors including the homeobox genes, pax6 (11q), foxe3 (1q), pitx3 (10q) and vsx2 (14q), and the bzip transcription factor v-maf avian musculo-aponeurotic fibrosarcoma oncogene homolog (maf, 16q) underlie cataract plus anterior segment developmental disorders and microphthalmia sometimes associated with secondary glaucoma [41].

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