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Article

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2017

Li Jiacheng, Wu Wei, Lu Chaoxia, Liu Yaping, Wang Rongrong, Si Nuo, Liu Fang, Zhou Jian, Zhang Shuyang, Zhang Xue

Abstract excerpt

BACKGROUND: A mutation in FBN1 is primarily attributed to Marfan syndrome (MFS). So far, >1800 unique FBN1 mutations have been identified, with the vast majority being single-nucleotide substitutions, small deletions, and insertions. The rearrangement of large fragments of FBN1 accounts for only 1.7% of all variants. The aim of this study was to investigate the characteristics of large genomic rearrangements in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28842177
DOI: 10.1016/j.cca.2017.08.023

Genes

FBN1
TGFBR1
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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