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OTX2
NM_172337.3:p.P221_A236del16
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
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
Schilter KF et al.
Clinical Genetics, 2011
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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