MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.

@article{GunayAygun2009MKS3relatedCW,
  title={MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.},
  author={Meral Gunay-Aygun and Melissa A Parisi and Dan G. Doherty and Maya Tuchman and Ekaterini Tsilou and David E Kleiner and Marjan Huizing and Baris Turkbey and Peter M Choyke and L. M. Guay-Woodford and Theo Heller and Katarzyna M. Szymańska and Colin A. Johnson and Ian A Glass and William A Gahl},
  journal={The Journal of pediatrics},
  year={2009},
  volume={155 3},
  pages={386-92.e1}
}
OBJECTIVES To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS). STUDY DESIGN Biochemical evaluations, magnetic resonance and ultrasound imaging, electroretinograms, IQ testing, and sequence analysis of the PKHD1 and MKS3 genes were performed. Functional consequences of the MKS3 mutations were evaluated by cDNA sequencing and transfection studies with… CONTINUE READING