Non-penetrance in tuberous sclerosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1870099.
- Also identified by PMC identifier 1016911.
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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.
Medical subject headings
- Tuberous Sclerosis