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Genetic complexity in Joubert syndrome and related disorders

Kidney International
DOI: 10.1038/sj.ki.5002577
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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.

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APA

Harris, P. C. (2007). Genetic complexity in Joubert syndrome and related disorders. Kidney International. Nature Publishing Group. https://doi.org/10.1038/sj.ki.5002577

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