Show Summary Details
Page of

Warsaw Breakage Syndrome 

Warsaw Breakage Syndrome
Warsaw Breakage Syndrome

Johan P. De Winter

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 24 February 2021

Warsaw breakage syndrome (WABS) is a very rare genetic instability syndrome caused by biallelic mutations in the iron-sulfur-containing DNA helicase DDX11. The few patients described so far typically present with severe growth retardation, microcephaly, intellectual disability and deafness. At the cellular level WABS patients show a unique phenotype in which features of Fanconi anemia (drug-induced chromosomal breakage) and Roberts syndrome (sister chromatid cohesion defects) co-exist. The spontaneous cohesion defects classify this disease as a novel cohesinopathy.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.