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    The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

    Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system (most commonly occipital ence...

    Ursula M Smith, Mark Consugar, Louise J Tee, Brandy M McKee… in Nature Genetics (2006)