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Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome.

Current molecular medicine - 1 Jan 2023

Buki Gergely, Hadzsiev Kinga, Bene Judit

Abstract excerpt

BACKGROUND: Marfan syndrome (MFS) is an autosomal dominant multisystem disorder caused by mutations in the fibrillin-1 gene (FBN1). A small portion of them is copy number variations (CNVs), which can occur through recombination-based, replication-based mechanisms or retrotransposition. Not many have been characterized precisely in MFS. METHODS: A female patient with suspected Marfan syndrome was referred for...

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PMID: 37038253
DOI: 10.2174/1566524022666220428111943

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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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