Article
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
Human genetics - 1 Oct 1994
Lohmann D R, Brandt B, Höpping W, Passarge E, Horsthemke B
Abstract excerpt
The interfamilial diversity in penetrance and expressivity of hereditary retinoblastoma was investigated in 29 families. By using a simple parameter for estimating the severity of the disease (diseased-eye-ratio), we were able to identify four families with a discrete low-penetrance phenotype. The underlying genetic defect was identified in three families. One family has a 3-bp deletion in exon 16 that results in...
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