Hajdu Cheney Syndrome due to NOTCH2 defect – First case report from Pakistan and review of literature

Medicine and Dentistry

• Hajdu Cheney Syndrome 100%
• Signal Transduction 50%
• Notch Signaling 50%
• Diseases 25%
• Autosomal Dominant Inheritance 25%
• Embryo Development 25%
• Fragility Fracture 25%
• Vascularity 25%
• Case Presentation 25%
• Vertebra Malformation 25%
• Gene Sequence 25%
• Bone Disease 25%
• DNA Sequence 25%
• Facies 25%
• Metabolic Bone Disease 25%
• Juvenile Osteoporosis 25%
• Skeleton 25%
• Osteoporosis 25%
• Exon 25%
• Osteolysis 25%

Biochemistry, Genetics and Molecular Biology

• Notch Signaling Pathway 100%
• Embryogenesis 50%
• Signal Transduction 50%
• Vascularization 50%
• Exon 50%
• DNA Sequence 50%
• Gene Sequence 50%
• Autosomal Dominant Inheritance 50%
• Osteolysis 50%