Article
High rate of mosaicism in tuberous sclerosis complex.
American journal of human genetics - 1 Jun 1999
Verhoef S, Bakker L, Tempelaars A M, Hesseling-Janssen A L, Mazurczak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg B A, van Essen A J, Lindhout D, Halley D J, van den Ouweland A M
Abstract excerpt
Six families with mosaicism are identified in a series of 62 unrelated families with a mutation in one of the two tuberous sclerosis complex (TSC) genes, TSC1 or TSC2. In five families, somatic mosaicism was present in a mildly affected parent of an index patient. In one family with clinically unaffected parents, gonadal mosaicism was detected after TSC was found in three children. The detection of mosaicism has...
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