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retinal dystrophy, early-onset, and pituitary dysfunction
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OTX2
Genomic amplification of orthodenticle homologue 2 in medulloblastomas
Identification of OTX2 as a medulloblastoma oncogene whose product can be targeted by all-trans retinoic acid
Heterozygous mutations of OTX2 cause severe ocular malformations
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