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Kidney Int. 2007 Dec;72(12):1421-3.

Genetic complexity in Joubert syndrome and related disorders.

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  • Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. Harris.peter@mayo.edu


The recent identification of RPGRIP1L as a Joubert syndrome gene brings the total of known genes to five. Three of these are also associated with the lethal Meckel syndrome, and two with Senior-Løken syndrome; both of these disorders share Joubert syndrome phenotypes, illustrating the genetic complexity of this.

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