Associated Papers
Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene.
Fabiani M et al.
Genes, 2022
[Whole exome sequencing analysis and prenatal diagnosis for a Chinese pedigree affected with microphthalmia].
Zhang Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
A de novo variant in OTX2 in a lamb with otocephaly.
Paris JM et al.
Acta Veterinaria Scandinavica, 2020
New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio A et al.
Bmc Medical Genomics, 2018
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
Somashekar PH et al.
Ophthalmic Genetics, 2017
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
Sergouniotis PI et al.
Journal of Human Genetics, 2015
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N et al.
Clinical Genetics, 2014
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.
Patat O et al.
Molecular Syndromology, 2013
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
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
Gonzalez-Rodriguez J et al.
The British Journal of Ophthalmology, 2010
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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