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Article

C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.

Molecular vision - 1 Jan 2015

Wang Fengyun, Li Bo, Lan Lan, Li Lin

Abstract excerpt

PURPOSE: To screen mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). METHODS: Patients and unaffected family members were given ophthalmic, cardiovascular, and physical examinations with a 5-year follow-up. Genomic DNA was extracted from the leukocytes of venous blood from all patients and their relatives. The entire coding region of the FBN1gene was...

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Identifiers

PMID: 25729264
PMCID: PMC4341440

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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