The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
- Resource Type
- Journal
- Authors
- Delous, Marion; Baala, Lekbir; Salomon, Remi; Laclef, Christine; Vierkotten, Jeanette; Tory, Kalman; Golzio, Christelle; Lacoste, Tiphanie; Besse, Laurianne; Ozilou, Catherine; Moutkine, Imane; Hellman, Nathan E.; Anselme, Isabelle; Silbermann, Flora; Vesque, Christine; Gerhardt, Christoph; Rattenberry, Eleanor; Wolf, Matthias T. F.; Gubler, Marie Claire; Martinovic, Jelena; Encha-Razavi, Ferechte; Boddaert, Nathalie; Gonzales, Marie; Macher, Marie Alice; Nivet, Hubert; Champion, Gerard; Bertheleme, Jean Pierre; Niaudet, Patrick; McDonald, Fiona; Hildebrandt, Friedhelm; Johnson, Colin A.; Vekemans, Michel; Antignac, Corinne; Ruether, Ulrich; Schneider-Maunoury, Sylvie; Attie-Bitach, Tania; Saunier, Sophie
- Source
- NATURE GENETICS; JUL 2007, 39 7, p875-p881, 7p.
- Subject
- Language
- English
- ISSN
- 10614036