Newly discovered mutations in the GALNT3 gene causing auto-somal recessive hyperostosis-hyperphosphatemia syndrome

Keyphrases

• Hyperphosphatemia 100%
• GALNT3 100%
• Cortical Hyperostosis 100%
• Hyperostosis 100%
• Osteomyelitis 66%
• Molecular Analysis 33%
• Clinical Features 33%
• Etiology 33%
• Clinical Assessment 33%
• New Bone Formation 33%
• Long Bone 33%
• Radiological Assessment 33%
• Autosomal Recessive 33%
• Differential Diagnosis 33%
• Initial Diagnosis 33%
• Radiological Features 33%
• Direct Sequencing 33%
• Pathogenic mutations 33%
• Consanguineous Parents 33%
• Bone Neoplasms 33%
• Bone Malignancy 33%
• Periosteal Reaction 33%
• Painless Swelling 33%
• Periosteal New Bone 33%

Medicine and Dentistry

• Hyperphosphatemia 100%
• Hyperostosis 100%
• Osteomyelitis 33%
• Cancer 16%
• Bone Cancer 16%
• Clinical Assessment 16%
• Ossification 16%
• Radiodiagnosis 16%
• Differential Diagnosis 16%
• Autosomal Recessive Disorder 16%
• Offspring 16%