Article
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.
Cold Spring Harbor molecular case studies - 1 Nov 2017
Bodian Dale L, Vilboux Thierry, Hourigan Suchitra K, Jenevein Callie L, Mani Haresh, Kent Kathleen C, Khromykh Alina, Solomon Benjamin D, Hauser Natalie S
Abstract excerpt
We describe a case of an infant presenting with intractable diarrhea who subsequently developed dilated cardiomyopathy, for whom a diagnosis was not initially achieved despite extensive clinical testing, including panel-based genetic testing. Research-based whole-genome sequences of the proband and both parents were analyzed by the SAVANNA pipeline, a variant prioritization strategy integrating features of...
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