Article
Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome.
Cellular and molecular life sciences : CMLS - 1 Jul 2014
Bharti Sanjay Kumar, Khan Irfan, Banerjee Taraswi, Sommers Joshua A, Wu Yuliang, Brosh Robert M
Abstract excerpt
In 2010, a new recessive cohesinopathy disorder, designated Warsaw breakage syndrome (WABS), was described. The individual with WABS displayed microcephaly, pre- and postnatal growth retardation, and abnormal skin pigmentation. Cytogenetic analysis revealed mitomycin C (MMC)-induced chromosomal breakage; however, an additional sister chromatid cohesion defect was also observed. WABS is genetically linked to...
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