Article
Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology.
International journal of molecular sciences - 25 Feb 2021
Santos Diana, Mahtab Mohammad, Boavida Ana, Pisani Francesca M
Abstract excerpt
Warsaw breakage syndrome (WABS) is a genetic disorder characterized by sister chromatid cohesion defects, growth retardation, microcephaly, hearing loss and other variable clinical manifestations. WABS is due to biallelic mutations of the gene coding for the super-family 2 DNA helicase DDX11/ChlR1, orthologous to the yeast chromosome loss protein 1 (Chl1). WABS is classified in the group of "cohesinopathies",...
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