Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome
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Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmon... ...
