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Warsaw Breakage Syndrome 

Warsaw Breakage Syndrome
Chapter:
Warsaw Breakage Syndrome
Author(s):

Johan P. De Winter

DOI:
10.1093/med/9780199934522.003.0156
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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.

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