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Pathology General pathology 2cb1ebba

Inherited defect in the extracellular glycoprotein called fibrillin-1 results in which disease?

A
Hereditary spherocytosis
B
Marfan syndrome
C
Marfan syndrome
D
Duchenne muscular dystrophy
High-Yield Explanation
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.

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