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Genetic complexity in Joubert syndrome and related disorders
1Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. Harris.peter@mayo.edu
Abstract:
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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