Article
Germ-line mosaicism in tuberous sclerosis: how common?
American journal of human genetics - 1 Apr 1999
Rose V M, Au K S, Pollom G, Roach E S, Prashner H R, Northrup H
Abstract excerpt
Two-thirds of cases of tuberous sclerosis complex (TSC) are sporadic and usually are attributed to new mutations, but unaffected parents sometimes have more than one affected child. We sought to determine how many of these cases represent germ-line mosaicism, as has been reported for other genetic diseases. In our sample of 120 families with TSC, 7 families had two affected children and clinically unaffected...
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