Mutation in Marfan’s syndrome is?
Correct Answer: Fibrillin I
Description: Robbins and Cotran pathologic basis of disease South Asia edition. * Marfan's syndrome results from an inherited defect in an extracellular glycoprotein called fibrillin 1 by loss of structural suppo in microfibril rich connective tissues and excessive activation of TGF- beta signally Ref Robbins 9/e pg252
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Pathology
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