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
The homeobox gene Otx2 in development and disease.
Beby F et al.
Experimental Eye Research, 2013
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
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.
Dateki S et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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