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Brief Communication
Nature Genetics 38, 155–157 (1 February 2006) | doi:10.1038/ng1714
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
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Abstract
Meckel syndrome (MKS) is a severe fetal developmental disorder reported in most populations. The clinical hallmarks are occipital meningoencephalocele, cystic kidney dysplasia, fibrotic changes of the liver and polydactyly.
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