Marfan Syndrome
Marfan syndrome is an inherited disorder that affects Type I collagen (Alpha 2) Incidence : 1: 10,000 Autosomal dominant It involves: Skeletal Ocular Cardiovascular Pulmonary Skin Integument Dura Mutation in type 1 fibrillin (FBN 1) : Major component of microfibril 3 Types Mis-sense mutation Small insertion/ deletion mutation exon skipping mutation Ghent Diagnostic Criteria for Marfan Syndrome […]
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