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Life Sciences → Biochemistry, Genetics and Molecular Biology → Genetics

Connective tissue disorders research

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.

66.5K works worldwide861.6K citations
Marfan SyndromeEhlers-Danlos SyndromeOsteogenesis ImperfectaTGF-ß Receptor MutationsElastinFibrillin-1Smooth Muscle Alpha-Actin MutationsCollagen DisordersAortic AneurysmGenetic Skeletal Disorders

Journals publishing in this area

1Bone cover
Bone
ISSN 1873-2763642 articles in this topic
268h-index
2Journal of Bone and Mineral Research cover
Journal of Bone and Mineral Research
ISSN 0884-0431437 articles in this topic
330h-index
3
Journal of Medical Genetics
ISSN 0022-2593418 articles in this topic
246h-index
4The American Journal of Human Genetics cover
The American Journal of Human Genetics
ISSN 0002-9297260 articles in this topic
387h-index