Connective tissue disorders research

Connective tissue disorders research is a research topic within Genetics. Science Explorer counts 28k research works in it since 1950. 10.1% of them reached the world's top 10% most cited for their field and year.

This cluster of papers explores genetic and molecular aspects of various connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome, and Osteogenesis Imperfecta. It delves into mutations in genes encoding proteins like TGF-ß receptor, elastin, fibrillin-1, and collagen, as well as their implications in aortic aneurysms and skeletal abnormalities.

• Marfan Syndrome
• Ehlers-Danlos Syndrome
• Osteogenesis Imperfecta
• TGF-ß Receptor Mutations
• Elastin
• Fibrillin-1
• Smooth Muscle Alpha-Actin Mutations
• Collagen Disorders
• Aortic Aneurysm
• Genetic Skeletal Disorders