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Article

Ligase IV syndrome.

Advances in experimental medicine and biology - 1 Jan 2010

Chistiakov Dimitry A

Abstract excerpt

Ligase IV (LIG4) syndrome belongs to the group of hereditary disorders associated with impaired DNA damage response mechanisms. Clinically and morphologically, patients affected with this syndrome are characterized by microcephaly, unusual facial features, growth retardation, developmental delay, skin anomalies and are typically pancytopenic. The disease leads to acute radiosensitivity, immunodeficiency and bone...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20687505
DOI: 10.1007/978-1-4419-6448-9_16

Genes

LIG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Ligase IV syndrome.PMID 20687505Read ↗

DNA ligase IV syndrome; a review.Semantic proximity Read ↗

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Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndromeSemantic proximity Read ↗

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.Semantic proximity Read ↗

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the LiteratureSemantic proximity Read ↗

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.Semantic proximity Read ↗

Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome.Semantic proximity Read ↗

Molecular and immunological characterization of DNA ligase IV deficiency.Semantic proximity Read ↗

A novel mutation in a family with DNA ligase IV deficiency syndrome.Semantic proximity Read ↗

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