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Article

Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.

Molecular medicine reports - 1 Jul 2016

Ma Mingjia, Li Zongzhe, Wang Dao Wen, Wei Xiang

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant heterogeneous disorder of connective tissue characterized by the early development of thoracic aneurysms/dissections, together with defects of the ocular and skeletal systems. Loss-of-function mutations in fibrillin-1 (FBN1) encoded by the gene, FBN1 (MFS‑1), and in the transforming growth factor β receptor 2 (TGFBR2) gene, TGFBR2 (MFS‑2), are major causes of this...

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Identifiers

PMID: 27175573
DOI: 10.3892/mmr.2016.5229
PMCID: PMC4918605

Genes

FBN1
TGFBR2

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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