Associated Papers
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F et al.
Human Mutation, 2010
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Frank V et al.
Human Mutation, 2008
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Baala L et al.
American Journal of Human Genetics, 2007
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