Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

Medicine & Life Sciences

• Bruck syndrome 2 100%
• Contracture 46%
• Osteogenesis Imperfecta 28%
• Genetic Databases 27%
• 2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine 23%
• Mutation 23%
• Exons 23%
• Collagen Type I 21%
• Pterygium 19%
• Exome 17%
• Metabolic Bone Diseases 15%
• Cleft Soft Palate 12%
• Joints 10%
• DiGeorge Syndrome 9%
• Skull Fractures 9%
• Cervical Vertebrae 9%
• Alendronate 9%
• Chromosome Deletion 9%
• Mothers 9%
• Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8%
• Sclera 8%
• Fracture Healing 8%
• Ilium 8%
• Hydroxylation 8%
• Loss of Function Mutation 8%
• Scoliosis 7%
• Tetracycline 7%
• Fathers 6%
• Siblings 6%
• Lung Diseases 6%
• Osteoporosis 6%
• Osteogenesis 6%
• Thorax 4%
• Pediatrics 4%
• Biopsy 4%
• Databases 4%
• Phenotype 4%
• Bone and Bones 4%
• Genes 2%
• Therapeutics 1%