Publication
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Marion Delous, Lekbir Baala, Rémi Salomon, Christine Laclef, Jeanette Vierkotten, Kàlmàn 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 Gubler, Jéléna Martinovic, Féréchté Encha-Razavi, Nathalie Boddaert, Marie Gonzales, 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
Nature Genetics, June 2007, Springer Science + Business Media
DOI: 10.1038/ng2039