Associated Papers
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
Schilter KF et al.
Clinical Genetics, 2011
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
Ashkenazi-Hoffnung L et al.
Human Genetics, 2010
Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.
Dateki S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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