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Letter

Nature Genetics 38, 191–196 (1 February 2006) | doi:10.1038/ng1713

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

Ursula M Smith , Mark Consugar , Louise J Tee , Brandy M McKee , Esther N Maina , Shelly Whelan , Neil V Morgan , Erin Goranson , Paul Gissen , Stacie Lilliquist , Irene A Aligianis , Christopher J Ward , Shanaz Pasha , Rachaneekorn Punyashthiti , Saghira Malik Sharif , Philip A Batman , Christopher P Bennett , C Geoffrey Woods , Carole McKeown , Martine Bucourt , Caroline A Miller , Phillip Cox , Lihadh AlGazali , Richard C Trembath , Vicente E Torres , Tania Attie-Bitach , Deirdre A Kelly , Eamonn R Maher , Vincent H Gattone , Peter C Harris & Colin A Johnson

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 encephalocele), hepatic ductal dysplasia and cysts and polydactyly. MKS is genetically heterogeneous, with three loci mapped: MKS1, 17q21-24 (ref.