Genetic complexity in Joubert syndrome and related disorders

Research output: Contribution to journalComment/debatepeer-review

15 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1421-1423
Number of pages3
JournalKidney international
Issue number12
StatePublished - Dec 2007

ASJC Scopus subject areas

  • Nephrology


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