Associated Papers
New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio A et al.
Bmc Medical Genomics, 2018
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
Sergouniotis PI et al.
Journal of Human Genetics, 2015
The homeobox gene Otx2 in development and disease.
Beby F et al.
Experimental Eye Research, 2013
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.
Schorderet DF et al.
Biomed Research International, 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
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
Jimenez NL et al.
Bmc Medical Genetics, 2011
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
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
Wyatt A et al.
Human Mutation, 2008
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