Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK

Keyphrases

• Early Onset 100%
• Paget's Disease of Bone 100%
• Duplication 100%
• Tandem Duplication 100%
• TNFRSF11A 100%
• Mexican-origin Families 100%
• Skeletal Disease 42%
• Nuclear factor-B 14%
• Middle-aged 14%
• Adulthood 14%
• Signal Peptide 14%
• Operative 14%
• Bone Disease 14%
• Hearing Impairment 14%
• Serum Alkaline Phosphatase 14%
• Calvaria 14%
• Bone Remodeling 14%
• Biochemical Studies 14%
• Low Bone Mineral Density 14%
• Kindred 14%
• Expansile 14%
• Enlargement 14%
• Long Bone 14%
• Osteocalcin 14%
• Hypercalcemia 14%
• Vertebral Compression Fracture 14%
• Bone Alkaline Phosphatase 14%
• Lucency 14%
• C-telopeptide 14%
• High Turnover 14%
• Tooth Loss 14%
• Low-trauma Fracture 14%
• Hand Involvement 14%
• Bone Cortex 14%
• Familial Expansile Osteolysis 14%
• Expansile Skeletal Hyperphosphatasia 14%
• Mexican-origin 14%
• Radiological Imaging 14%
• Lucent 14%

Medicine and Dentistry

• Base 100%
• Paget Bone Disease 100%
• Bone Disease 57%
• Diseases 28%
• Nuclear Factor 14%
• Alternative Complement Pathway C3 C5 Convertase 14%
• Receptor 14%
• Osteoplasty 14%
• Middle Age 14%
• Finger 14%
• Bone Density 14%
• Osteolysis 14%
• Alkaline Phosphatase 14%
• Dual-Energy X-Ray Absorptiometry 14%
• Hearing Impairment 14%
• Compression Fracture 14%
• Hypercalcaemia 14%
• Morbidity 14%
• Osteocalcin 14%
• Alkaline Phosphatase Bone Isoenzyme 14%
• Telopeptide 14%
• Bone Remodeling 14%
• Periodontal Disease 14%
• Signal Peptide 14%