Clinical utility gene card for: Meckel syndrome – update 2016
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201633.pdf
Reference14 articles.
1. Salonen R : The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 1984; 18: 671–689.
2. Paavola P, Salonen R, Baumer A et al: Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 1997; 101: 88–92.
3. 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.
4. 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.
5. Frank V, Bruchle N, Mager S et al: Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. Hum Mutat 2007; 28: 638–639.
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