Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy.

Polymicrogyria is a type of cortical dysplasia with cortical organizational defect. Bilateral polymicrogyria are distinct with genetic basis in a subs...
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[Hereditary ectopia lentis].
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Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.
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Molecular pathogenesis and management strategies of ectopia lentis.
Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. The recent expansion in the genetics of these conditions has furthered the understanding of the underlying molecular aetiology. It is becoming a