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Meckel syndrome type 2
- ... Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet. 2007 Jul;81(1): ... the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat. 2008 Jan;29(1):45-52. ...