Inherited defect in the extracellular glycoprotein called fibrillin-1 results in which disease?
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.
Hereditary spherocytosis
Marfan syndrome
Marfan syndrome
Duchenne muscular dystrophy
General pathology