Reduced penetrance in tuberous sclerosis.
Two first cousins are reported with clinical evidence of tuberous sclerosis. The intervening brother and sister show no evidence of the disease on clinical and Wood's lamp examination, nor on CT scan.
D000293:Adolescent; D000368:Aged; D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging / Q000235:genetics*