Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
The homeobox gene Otx2 in development and disease.
Beby F et al.
Experimental Eye Research, 2013
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
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
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.
Henderson RA et al.
European Journal of Human Genetics : Ejhg, 2007
Heterozygous mutations of OTX2 cause severe ocular malformations.
Ragge NK et al.
American Journal of Human Genetics, 2005
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