Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.

  title={Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.},
  author={Shagufta Khaliq and Abdul Hameed and Muhammad Ismail and Khalid Anwar and Bart Peter Leroy and Annette M. Payne and Shomi Shanker Bhattacharya and Syed Qasim Mehdi},
  journal={Investigative ophthalmology & visual science},
  volume={42 10},
PURPOSE To map the disease locus in a six-generation, consanguineous Pakistani family affected by nonsyndromic autosomal recessive persistent hyperplastic primary vitreous (arPHPV). All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and a retrolenticular white mass behind the lens. METHODS Genomic DNA from family members was typed for alleles at more than 400 known polymorphic genetic markers, by polymerase chain reaction… CONTINUE READING


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