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. 2006 Feb;38(2):155-7.
doi: 10.1038/ng1714. Epub 2006 Jan 15.

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

Mira Kyttälä  1 , Jonna Tallila, Riitta Salonen, Outi Kopra, Nicolai Kohlschmidt, Paulina Paavola-Sakki, Leena Peltonen, Marjo Kestilä
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MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

Mira Kyttälä et al. Nat Genet. 2006 Feb.

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. Here we report the identification of a gene, MKS1, mutated in MKS families linked to 17q. Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS. Comparative genomics and proteomics data implicate MKS1 in ciliary functions.

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