Associated Papers
Whole-Exome Sequencing on Circulating Tumor Cells Explores Platinum-Drug Resistance Mutations in Advanced Non-small Cell Lung Cancer.
Chang Y et al.
Frontiers in Genetics, 2021
34616428 (PubMed )
Supplement: Table_3.XLSX › C1904974
New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio A et al.
Bmc Medical Genomics, 2018
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
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
Henderson RH et al.
Molecular Vision, 2009
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.
Tajima T et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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