Associated Papers
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Development of the Pituitary Gland.
Alatzoglou KS et al.
Comprehensive Physiology, 2020
Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells.
Matsumoto R et al.
The Journal of Clinical Investigation, 2020
Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome.
Bosch I Ara L et al.
Frontiers in Pediatrics, 2020
Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.
Slavotinek A
Human Genetics, 2019
Pituitary Hypoplasia.
Gangat M et al.
Endocrinology and Metabolism Clinics of North America, 2017
The homeobox gene Otx2 in development and disease.
Beby F et al.
Experimental Eye Research, 2013
Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2013
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 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
Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.
Dateki S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
Diaczok D et al.
The Journal of Clinical Endocrinology and Metabolism, 2008