Article
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
Clinical genetics - 1 Sept 2013
Carmichael H, Shen Y, Nguyen T T, Hirschhorn J N, Dauber A
Abstract excerpt
Whole exome sequencing and chromosomal microarrays are two powerful technologies that have transformed the ability of researchers to search for potentially causal variants in human disease. This study combines these tools to search for causal variants in a patient found to have maternal uniparental isodisomy of chromosome 2. This subject has a complex phenotype including skeletal and renal dysplasia, immune...
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