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Article

Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders.

Chinese medical journal - 1 Mar 2011

Gao Ling-gen, Yao Xiu-ping, Zhang Lin, Hui Ru-tai, Zhou Xian-liang

Abstract excerpt

Marfan syndrome is a systemic disorder of connective tissue, caused by mutations in the FBN1, TGFBR1 or TGFBR2 genes. This syndrome is characterized by involvement of three major systems, skeletal, ocular, and cardiovascular. The continuing improvements in molecular biology and increasing availability of molecular diagnosis in clinical practice allow recognition of Marfan syndrome in patients with incomplete...

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Source

Identifiers

PMID: 21518605

Genes

FBN1
TGFBR1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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