Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

@article{Fiskerstrand2010IdentificationOA,
  title={Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.},
  author={Torunn Fiskerstrand and Gunnar Houge and Staale Sund and David Scheie and Sabine Leh and Helge Boman and Per Morten Knappskog},
  journal={The Journal of molecular diagnostics : JMD},
  year={2010},
  volume={12 1},
  pages={125-31}
}
We have investigated a family where two siblings had a developmental disorder associated with polycystic dysplastic kidney disease that was incompatible with postnatal survival. Additional features observed were ductal plate malformation in the liver, dysplasia of the pancreas, and (in one individual) complete situs inversus and polymicrogyria of the… CONTINUE READING