Article ID Journal Published Year Pages File Type
10957712 Molecular and Cellular Probes 2015 8 Pages PDF
Abstract
Three exemplary clinical cases of infants with cholestasis are presented and discussed in the context of their genetic and histopathological findings (autosomal recessive polycystic kidney disease, atypical PFIC and Niemann-Pick syndrome type C1). These case reports highlight the critical impact of integrating clinical, histopathological and genetic data during the process of multi gene panel testing to ultimately pinpoint rare genetic diagnoses.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Cell Biology
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