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Article

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.

American journal of human genetics - 12 Feb 2010

van der Lelij Petra, Chrzanowska Krystyna H, Godthelp Barbara C, Rooimans Martin A, Oostra Anneke B, Stumm Markus, Zdzienicka Małgorzata Z, Joenje Hans, de Winter Johan P

Abstract excerpt

The iron-sulfur-containing DNA helicases XPD, FANCJ, DDX11, and RTEL represent a small subclass of superfamily 2 helicases. XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. Here, we report a human individual with biallelic mutations...

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Identifiers

PMID: 20137776
DOI: 10.1016/j.ajhg.2010.01.008
PMCID: PMC2820174

Genes

DDX11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20137776-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.PMID 20137776Read ↗

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Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.Semantic proximity Read ↗

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