Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma.

@article{Suri2009VariableEA,
  title={Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma.},
  author={Fatemeh Suri and Shahin Yazdani and Mehrnaz Narooie-Nejhad and Seyed Jalal Zargar and Seyed Hassan Paylakhi and S Zeinali and Mohammad Reza Pakravan and Elahe Elahi},
  journal={Ophthalmology},
  year={2009},
  volume={116 11},
  pages={2101-9}
}
OBJECTIVE To investigate penetrance and expressivity of CYP1B1 genotypes associated with primary congenital glaucoma (PCG). DESIGN Observational case series, systematic review, and comparative analysis of the literature. PARTICIPANTS Forty probands affected with PCG, 16 siblings affected with PCG, and 103 siblings and 75 parents of the probands reported not to be affected by history. The participants were members of 40 unrelated families. METHODS Mutations were screened by restriction… CONTINUE READING
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