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Article

Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome.

Japanese journal of ophthalmology - 1 Jan 2000

Jin Chongfei, Yao Ke, Sun Zhaohui, Wu Renyi

Abstract excerpt

PURPOSE: To describe a Chinese patient with Marfan syndrome who had a unique phenotype and a recurrent mutation in the fibrillin-1 (FBN1) gene. CASE AND METHODS: A 31-year-old man who had a spontaneous bilateral lens dislocation into the vitreous cavity in childhood was found to have retinal and choroidal detachments in both eyes. A congenital atrial septal defect was detected. Pars plana vitrectomy, lensectomy,...

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Source

Identifiers

PMID: 19089573
DOI: 10.1007/s10384-008-0586-y

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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