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Article

Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families.

Molecular vision - 1 Jan 2009

Zhao Liming, Liang Ting, Xu Jianzhen, Lin Hui, Li Dandan, Qi Yanhua

Abstract excerpt

PURPOSE: To identify the molecular defects in the fibrillin-1 gene (FBN1) in two Chinese families with ectopia lentis (EL) and marfanoid habitus. METHODS: Five patients and eight non-carriers in the two families underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the families as well as 100 healthy normal...

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Identifiers

PMID: 19390640
PMCID: PMC2672146

Genes

FBN1

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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