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. 2011 Jul;19(7).
doi: 10.1038/ejhg.2010.255. Epub 2011 Feb 2.

Clinical utility gene card for: Meckel syndrome

R Salonen  1 , M Kestilä, C Bergmann
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Clinical utility gene card for: Meckel syndrome

R Salonen et al. Eur J Hum Genet. 2011 Jul.
No abstract available

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References

    1. Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 1984;18:671–689. - PubMed
    1. Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, et al. Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet. 1997;101:88–92. - PubMed
    1. Kyttala M, Tallila J, Salonen R, et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006;38:155–157. - PubMed
    1. Consugar MB, Kubly VJ, Lager DJ, et al. Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet. 2007;121:591–599. - PubMed
    1. Dawe HR, Smith UM, Cullinane AR, et al. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 2007;16:173–186. - PubMed

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