# The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/the-ciliary-gene-rpgrip1l-is-mutated-in-cerebello-oculo-renal-syndrome-joubert/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Marion Delous,Lekbir Baala,Rémi Salomon,Christine Laclef,Jeanette Vierkotten,Kálmán Tory,Christelle Golzio,Tiphanie Lacoste,Laurianne Besse,Catherine Ozilou,Imane Moutkine,Nathan E. Hellman,Isabelle Anselme,Flora Silbermann,Christine Vesque,Christoph Gerhardt,Eleanor Rattenberry,Matthias T. F. Wolf,Marie-Claire Gübler,Jéléna Martinovic,Férechté Encha‐Razavi,Nathalie Boddaert,Marie Gonzalès,Marie Alice Macher,Hubert Nivet,Gérard Champion,Jean Pierre Berthélémé,Patrick Niaudet,Fiona McDonald,Friedhelm Hildebrandt,Colin A. Johnson,Michel Vekemans,Corinne Antignac,Ulrich Rüther,Sylvie Schneider‐Maunoury,Tania Attié‐Bitach,Sophie Saunier |
| Citations | 497 |
| DOI | 10.1038/ng2039 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2050281909 |
| PMID | 17558409 |
| Type | article |
| Year | 2007 |

## Paper authors

- [Corinne Antignac](https://scholariq.org/researchers/corinne-antignac/)

## Paper primary topic

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)

## Paper topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Hedgehog Signaling Pathway Studies](https://scholariq.org/topics/hedgehog-signaling-pathway-studies/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.