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Article

Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Apr 2014

Khan Arif O, Bolz Hanno J, Bergmann Carsten

Abstract excerpt

BACKGROUND: Autosomal dominant mutation of the FBN1 gene (fibrillin-1) results in a spectrum of disease (type 1 fibrillopathies) ranging from Marfan syndrome with lens subluxation and cardiovascular complications to milder connective tissues phenotypes. The likelihood of FBN1 mutation in children...

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Source

Identifiers

PMID: 24698609
DOI: 10.1016/j.jaapos.2013.11.012

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24698609-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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