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Article

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

PLoS genetics - 1 Jan 2013

Verdin Hannah, D'haene Barbara, Beysen Diane, Novikova Yana, Menten Björn, Sante Tom, Lapunzina Pablo, Nevado Julian, Carvalho Claudia M B, Lupski James R, De Baere Elfride

Abstract excerpt

Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism. Recently, several microhomology-mediated repair mechanisms--such as microhomology-mediated end-joining (MMEJ), fork stalling and template switching (FoSTeS), microhomology-mediated break-induced replication (MMBIR), serial replication slippage (SRS), and...

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Source

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Identifiers

PMID: 23516377
DOI: 10.1371/journal.pgen.1003358
PMCID: PMC3597517

Genes

FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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