The Genetic Basis of Hydrocephalus.

@article{Kousi2016TheGB,
  title={The Genetic Basis of Hydrocephalus.},
  author={Maria M Kousi and Nicholas Katsanis},
  journal={Annual review of neuroscience},
  year={2016},
  volume={39},
  pages={
          409-35
        }
}
Studies of syndromic hydrocephalus have led to the identification of >100 causative genes. Even though this work has illuminated numerous pathways associated with hydrocephalus, it has also highlighted the fact that the genetics underlying this phenotype are more complex than anticipated originally. Mendelian forms of hydrocephalus account for a small fraction of the genetic burden, with clear evidence of background-dependent effects of alleles on penetrance and expressivity of driver mutations… CONTINUE READING

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