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Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.

Molecular genetics & genomic medicine - 1 Jul 2024

Han Dongming, Wang Ziwei, Chen Xuan, Liu Zijia, Yang Zhengtao, Chen Yixi, Tian Peiyi, Li Jiankang, Wang ZhuoShi

Abstract excerpt

BACKGROUND: Marfan syndrome (MFS) is a hereditary connective tissue disorder involving multiple systems, including ophthalmologic abnormalities. Most cases are due to heterozygous mutations in the fibrillin-1 gene (FBN1). Other associated genes include LTBP2, MYH11, MYLK, and SLC2A10. There is significant clinical overlap between MFS and other Marfan-like disorders. PURPOSE: To expand the mutation spectrum of...

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PMID: 38958168
DOI: 10.1002/mgg3.2482
PMCID: PMC11220501

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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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