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Combining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China.

Annals of palliative medicine - 1 Sept 2021

Duan Yanyu, Li Peijun, Ding Ting, Wang Yabin, Liao Yongling, Du Zhiming, Ling Jiayuan, Liu Shaoqiang, Li Weisong, Liu Ziyou

Abstract excerpt

BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder. Diagnosing MFS can be challenging as the disease's severity and clinical manifestations differ between pathogenic variants, and because a lack of published information currently exists on phenotype-genotype correlations. This report aims to underline the clinical manifestations associated with fibrillin-1 (FBN1) gene...

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PMID: 34628919
DOI: 10.21037/apm-21-2305

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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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