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Article

Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

Journal of human genetics - 1 Aug 2016

Saito Shinta, Kurosawa Aya, Adachi Noritaka

Abstract excerpt

In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recombination during lymphocyte development, it is generally believed that abnormalities in XRCC4 cause...

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Source

Identifiers

PMID: 27169690
DOI: 10.1038/jhg.2016.46

Genes

XRCC4

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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