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Article

A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations.

BMC medical genomics - 27 May 2023

Lin Jiansheng, Lin Yanyu, Wang Gaoxiong

Abstract excerpt

BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder affecting the cardiovascular, skeletal, and ophthalmic systems. This report aimed to describe a novel genetic background and treatment prognosis of MFS. CASE PRESENTATION: A proband was initially diagnosed with bilateral pathologic myopia and suspected MFS. We performed whole exome sequencing and found a pathogenic nonsense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37245000
DOI: 10.1186/s12920-023-01551-6
PMCID: PMC10225074

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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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