U01.18.005 Marfan Syndrome
Study this flashcard to understand the genetic and structural abnormalities in Marfan Syndrome. Identify how FBN1 gene mutations affecting fibrillin-1 disrupt connective tissue integrity, leading to cardiovascular, ocular, and skeletal manifestations.
Question tags aortic aneurysm, Aortic Dissection, arachnodactyly, autosomal dominant, bruising, cardiovascular complications, classical type, Clinical Genetics, connective tissue diseases, connective tissue disorder, ectopia lentis, FBN1 mutation, fibrillin-1 defect, Genetic disorders, long limbs, Marfan syndrome, Medical Flashcards, mitral valve prolapse, ocular findings, pathophysiology, skeletal abnormalities, tall stature, USMLE Step 1
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