Diversity in heritable disorders of connective tissue at a single center

Medicine & Life Sciences

• Connective Tissue 100%
• Mutation 59%
• Genes 21%
• Type 6 Osteogenesis imperfecta 17%
• Marfan Syndrome type 2 17%
• High-Throughput Nucleotide Sequencing 16%
• Phenotype 15%
• Developmental Bone Disease 13%
• Genotype 12%
• Ehlers-Danlos Syndrome 12%
• Osteogenesis Imperfecta 11%
• Whole Exome Sequencing 10%
• Genetic Association Studies 9%
• Extracellular Matrix 7%
• Collagen 6%
• Technology 5%

Chemical Compounds

• Disorder 90%
• Mutation 89%
• Collagen 8%