Genetic complexity in Joubert syndrome and related disorders

P. C. Harris

doi:10.1038/sj.ki.5002577

Genetic complexity in Joubert syndrome and related disorders

P. C. Harris

Nephrology and Hypertension

Research output: Contribution to journal › Comment/debate › peer-review

15 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1421-1423
Number of pages	3
Journal	Kidney international
Volume	72
Issue number	12
DOIs	https://doi.org/10.1038/sj.ki.5002577
State	Published - Dec 2007

ASJC Scopus subject areas

Nephrology

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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-L{\o}ken syndrome; both of these disorders share Joubert syndrome phenotypes, illustrating the genetic complexity of this.",

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AB - 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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Genetic complexity in Joubert syndrome and related disorders

Abstract

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