A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency

Keyphrases

• Gain-of-function mutation 100%
• Growth Hormone Deficiency 100%
• Anophthalmia 100%
• Otx2 100%
• HESX1 40%
• DNA Binding 20%
• Transcription Factor 20%
• Jewish 20%
• Genetic Analysis 20%
• Invisible 20%
• Pituitary 20%
• Homeodomain 20%
• Functional Analysis 20%
• Transactivation 20%
• Molecular Analysis 20%
• Short Stature 20%
• Sex-determining Region Y-box 2 (SOX2) 20%
• Heterozygous mutation 20%
• Brain Magnetic Resonance Imaging 20%
• Transcription Factor Genes 20%
• Anterior pituitary Gland 20%
• Hypothalamic-pituitary Axis 20%
• GH Deficiency 20%
• Endocrine Tests 20%
• Posterior Lobe 20%
• PROP1 20%
• POU1F1 20%
• Ocular Malformation 20%
• LHX4 20%

Biochemistry, Genetics and Molecular Biology

• Loss of Function Mutation 100%
• Isolated Growth Hormone Deficiency 100%
• Transcription Factors 66%
• HESX1 66%
• Genetics 33%
• DNA Binding 33%
• Homeodomain 33%
• Transactivation 33%
• Magnetism 33%
• Body Height 33%
• SOX2 33%
• LHX4 33%
• Hypothalamus Hypophysis System 33%
• PROP1 33%

Medicine and Dentistry

• Growth Hormone Deficiency 100%
• Loss of Function Mutation 100%
• Anophthalmia 100%
• Transcription Factors 50%
• Genetic Analysis 25%
• Magnetic Resonance Imaging 25%
• DNA Binding 25%
• Transactivation 25%
• Short Stature 25%
• Pituitary Gland 25%
• Eye Malformation 25%
• Hypothalamus Hypophysis System 25%