Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.

@article{Bull1997GeneticAM,
  title={Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.},
  author={Laura N. Bull and Victoria E. H. Carlton and Nicole L. Stricker and Siamak Baharloo and Joseph A. Deyoung and Nelson B. Freimer and Margret S. Magid and Ellen Kahn and James Markowitz and F J Dicarlo and Lisa McLoughlin and J. M. Boyle and Beverly Barrett Dahms and Philip R Faught and Joseph F. Fitzgerald and David A. Piccoli and Camillus L. Witzleben and Nancy C. O'connell and Kenneth D R Setchell and Rocco M. Agostini and Samuel A. Kocoshis and Jos{\'e} Reyes and A. S. Knisely},
  journal={Hepatology},
  year={1997},
  volume={26 1},
  pages={155-64}
}
Byler disease (ByD) is an autosomal recessive disorder in which cholestasis of onset in infancy leads to hepatic fibrosis and death. Children who have a clinically similar disorder, but are not members of the Amish kindred in which ByD was described, are said to have Byler syndrome (ByS). Controversy exists as to whether ByD and ByS (subtypes of progressive familial intrahepatic cholestasis [PFIC]) represent one clinicopathological entity. The gene for ByD has been mapped to a 19-cM region of… CONTINUE READING