Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10957712 | Molecular and Cellular Probes | 2015 | 8 Pages |
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.
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Authors
S.M. Herbst, S. Schirmer, C. Posovszky, F. Jochum, T. Rödl, J.A. Schroeder, T.F. Barth, U. Hehr, M. Melter, J. Vermehren,