Bilateral subluxation of the lens in a case of sporadic Marfan syndrome
Abstract
Marfan syndrome (MFS) is an autosomal dominant disorder caused by a fibrillin-1 gene mutation (FBN1). Atypical MFS is caused by inactivating mutations in transforming growth factor β receptor (TGFβR). About 30% of cases of MFS do not have a family history.
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References
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