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SF Journal of Clinical Case Reports

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Volume V2 Issue 1

Published articles in this issue

A Novel Mutation in the FOXL2 Gene in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Leucoencephalopathy and Myasthenia Gravis

Abstract: Blepharophimosis-Ptosis-Epicanthus inversus Syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure

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