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

2007; Nature Portfolio; Volume: 39; Issue: 7 Linguagem: Inglês

10.1038/ng2039

1546-1718

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 Gubler, 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,

Genetic Syndromes and Imprinting