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BMJ Publishing Group, British Journal of Ophthalmology, 12(86), p. 1359-1362, 2002

DOI: 10.1136/bjo.86.12.1359

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

Journal article published in 2002 by A. L. Evans, R. J. Cooling, G. Brice, P. Comeglio, A. H. Child
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant phenotype linked to the same FBN1 locus.