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Article

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

Human molecular genetics - 1 Jul 2015

Rosin Nadine, Elcioglu Nursel H, Beleggia Filippo, Isgüven Pinar, Altmüller Janine, Thiele Holger, Steindl Katharina, Joset Pascal, Rauch Anita, Nürnberg Peter, Wollnik Bernd, Yigit Gökhan

Abstract excerpt

DNA double-strand breaks (DSBs) are highly toxic lesions, which, if not properly repaired, can give rise to genomic instability. Non-homologous end-joining (NHEJ), a well-orchestrated, multistep process involving numerous proteins essential for cell viability, represents one major pathway to repair DSBs in mammalian cells, and mutations in different NHEJ components have been described in microcephalic syndromes...

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Identifiers

PMID: 25839420
DOI: 10.1093/hmg/ddv115

Genes

XRCC4

Variants

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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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