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Article

Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.

Molecular vision - 1 Jan 2013

Zhao Feng, Pan Xinyuan, Zhao Kanxing, Zhao Chen

Abstract excerpt

PURPOSE: To identify the causative mutations in two Chinese families with autosomal dominant Marfan syndrome and to describe the associated phenotypes. METHODS: Complete physical, ophthalmic, and cardiovascular examinations were given to the patients and unaffected individuals in the two families. Exclusive linkage mapping was performed for transforming growth factor beta receptor II (TGFBR2) and fibrillin-1...

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Source

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Identifiers

PMID: 23592911
PMCID: PMC3626374

Genes

FBN1
TGFBR2

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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