Non-penetrance in tuberous sclerosis. |
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| Authors: | D W Webb and J P Osborne |
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| Affiliation: | Bath Unit for Research into Paediatrics, Royal United Hospital. |
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| Abstract: | Non-penetrance has not been reported in tuberous sclerosis when modern non-invasive investigations have been performed. We report a four generation family in which there was a subject with minimal expression and another with non-penetrance between a great grandfather and his great grandson. This situation highlights the need for full investigation of children of tuberous sclerosis patients before counselling a low recurrence risk for the disease. |
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