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

Henderson RH, Williamson KA, Kennedy JS, Webster AR, Holder GE, Robson AG, FitzPatrick DR, van Heyningen V, Moore AT. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol Vis. 2009 Nov 21;15:2442-7.