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Article

The revised ghent nosology; reclassifying isolated ectopia lentis.

Clinical genetics - 1 Mar 2015

Chandra A, Patel D, Aragon-Martin J A, Pinard A, Collod-Béroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child A H, Arno G

Abstract excerpt

Inherited ectopia lentis (EL) is most commonly caused by Marfan syndrome (MFS), a multisystemic disorder caused by mutations in FBN1. Historically the diagnosis for patients with EL who have no systemic features of MFS is isolated EL (IEL). However, the Ghent nosology for MFS was updated in 2010 and made some important alterations. In particular, patients with EL and a FBN1 mutation are now categorically...

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PMID: 24635535
DOI: 10.1111/cge.12358

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FBN1

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