Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus

Background: Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the l...

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Autores principales: Comeglio, P, Evans, A L, Brice, G, Cooling, R J, Child, A H
Formato: Artigo
Lenguaje:Inglês
Publicado: Copyright 2002 British Journal of Ophthalmology 2002
Materias:
Scientific Correspondence
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1771443/
https://ncbi.nlm.nih.gov/pubmed/12446365
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