J Med Genet. 1991 Jun;28(6):417-9.

Non-penetrance in tuberous sclerosis.

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Bath Unit for Research into Paediatrics, Royal United Hospital.

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.

PMID:: 1870099; [PubMed - indexed for MEDLINE]
PMCID:: PMC1016911

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