Associated Papers
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
Gorbenko Del Blanco D et al.
European Journal of Endocrinology, 2012
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
Henderson RH et al.
Molecular Vision, 2009
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