Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

@inproceedings{Szymanska2012FounderMA,
  title={Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies},
  author={Katarzyna Szymanska and Ian R. Berry and Clare V Logan and Simon RR Cousins and Helen Lindsay and Hussain Jafri and Yasmin Raashid and Saghira Malik-Sharif and Bernice Castle and Mushtag Ahmed and Christopher T. Bennett and Ruth Carlton and Colin A Johnson},
  booktitle={Cilia},
  year={2012}
}
BackgroundMeckel-Gruber syndrome (MKS) is an autosomal recessive lethal condition that is a ciliopathy. MKS has marked phenotypic variability and genetic heterogeneity, with mutations in nine genes identified as causative to date.MethodsFamilies diagnosed with Meckel-Gruber syndrome were recruited for research studies following informed consent. DNA samples were analyzed by microsatellite genotyping and direct Sanger sequencing.ResultsWe now report the genetic analyses of 87 individuals from 49… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 14 REFERENCES