Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity

@article{Connolly1983FamilialER,
  title={Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity},
  author={Martin J. Connolly and R. H. Payne and George Johnson and Brenda L. Gallie and Penelope W Allderdice and William H. Marshall and Rodrick Lawton},
  journal={Human Genetics},
  year={1983},
  volume={65},
  pages={122-124}
}
We report an example of four generation familial retinoblastoma in which there are three distinct categories of RB gene expression: frank retinoblastoma, unilateral or bilateral; retinoma; and no visible evidence of retinal pathology other than normal degeneration with age. Two large sibships derived from matings informative for RB and EsD provide strong confirmatory evidence for tight linkage between these loci (P=0.0002), and thus assignment of RB to chromosome 13q14. There is a striking… CONTINUE READING
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