https://openalex.org/T11310
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.
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openalex:cited_by_count 756723 ;
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