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Baala L, Audollent S, Martinovic J, Ozilou C, Babron M, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge M, Roume J, Merrer ML, Meiner V, Meir K, Menez F, Beaufrère A, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler M, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T. Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome. The American Journal of Human Genetics. 2007 Jul;81(1):170–9. doi: 10.1086/519494. |