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Article

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.

European journal of medical genetics - 1 Sept 2020

Madhu Rajesh, Beaman Glenda M, Chandler Kate E, O'Sullivan James, Urquhart Jill E, Khan Naz, Martindale Elizabeth, Briggs Tracy A, Clayton-Smith Jill, Higgs Jenny, Batra Gauri, Kerr Bronwyn, Woolf Adrian S, Newman William G

Abstract excerpt

Ligase IV (LIG4) syndrome is a rare disorder of DNA damage repair caused by biallelic, pathogenic variants in LIG4. This is a phenotypically heterogeneous condition with clinical presentation varying from lymphoreticular malignancies in developmentally normal individuals to significant microcephaly, primordial dwarfism, radiation hypersensitivity, severe combined immunodeficiency and early mortality. Renal...

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Identifiers

PMID: 32534991
DOI: 10.1016/j.ejmg.2020.103974
PMCID: PMC7445424

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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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