Article
Intrafamilial phenotypic variability in tuberous sclerosis complex.
Journal of child neurology - 1 Dec 2007
Lyczkowski David A, Conant Kerry D, Pulsifer Margaret B, Jarrett Delma Y, Grant P Ellen, Kwiatkowski David J, Thiele Elizabeth A
Abstract excerpt
Clinical manifestations were retrospectively assessed in 5 families with tuberous sclerosis complex, including 1 pair of monozygotic twins. Interfamilial variation in tuber count was significantly larger than intrafamilial variation. Severity of epilepsy and cognitive profiles varied both between and within families, particularly between the monozygotic twins, and IQ was inversely related to tuber count....
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