Intrafamilial Variability and Clinical Heterogeneity in Two Siblings with NPHP4 loss of Function Mutations

Citation:
Nabhan, M. M., S. Brenzinger, J. Carlsson, S. N. Saleem, E. A. Otto, and F. Hildebrandt, "Intrafamilial Variability and Clinical Heterogeneity in Two Siblings with NPHP4 loss of Function Mutations", Journal of Molecular Biomarkers & Diagnosis, vol. 6, issue 217, pp. 1-4, 2015.