- PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Bergmann, C., Senderek, J., Schneider, F., Dornia, C., Küpper, F., Eggermann, T., Rudnik-Schöneborn, S., Kirfel, J., Moser, M., Büttner, R., Zerres, K. Hum. Mutat. (2004)