Inherited defect in the extracellular glycoprotein called fibrillin-1 results in which disease?
Hereditary spherocytosis
Marfan syndrome
Marfan syndrome
Duchenne muscular dystrophy
Robbins basic pathology 9th edition page no 220,Heading=marfans syndrome Marfan syndrome is a connective tissue disorder of autosomal dominant inheritance, the basic biochemical abnormality is a mutation affecting fibrillin. Fibrillin is encoded by FBN1gene, which maps to chromosomal locus15q21. Mutations in the FBN1gene are found in all patients with Marfan syndrome.
General pathology