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A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

Reference
Henderson, RH, et al. “A Rare de Novo Nonsense Mutation in OTX2 Causes Early Onset Retinal Dystrophy and Pituitary Dysfunction”. Mol Vis, vol. 15, Nov. 2009, pp. 2442-7.
PubMed Reference Number (PMID)
19956411