Genetic complexity in Joubert syndrome and related disorders.
review · Level V
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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.
Medical subject headings
- Cerebellar Diseases
- Eye Diseases
- Kidney Diseases, Cystic
- Proteins