Webb D W, Osborne J P
Bath Unit for Research into Paediatrics, Royal United Hospital.
J Med Genet. 1991 Jun;28(6):417-9. doi: 10.1136/jmg.28.6.417.
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.
在进行现代非侵入性检查时，结节性硬化症尚未有非外显的报道。我们报告了一个四代家族，其中一位曾祖父和他的曾孙之间存在一个表现轻微的个体和另一个非外显个体。这种情况凸显了在告知结节性硬化症患者疾病复发风险较低之前，对其子女进行全面检查的必要性。
