Non-penetrance in tuberous sclerosis.
Open Access
- 1 June 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (6) , 417-419
- https://doi.org/10.1136/jmg.28.6.417
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.Keywords
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