Article
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome.
American journal of medical genetics. Part A - 1 Oct 2009
Forsythe Elizabeth, Wild Ruth, Sellick Gabrielle, Houlston Richard S, Lehmann Alan R, Wakeling Emma
Abstract excerpt
We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance. UV irradiation of fibroblasts revealed an intermediate sensitivity between normal and standard Cockayne syndrome (CS) control cells. A genome-wide linkage scan conducted using Affymetrix 10K arrays...
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