Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H, Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States Genetics in medicine : official journal of the American College of Medical Genetics9:88-100 2007
PubMed ID: 17304050

Records Return:  (68) Show
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM06194Female49 YR921motherTUBEROUS SCLEROSIS 2; TSC2
GM06188Male15 YR921probandTUBEROUS SCLEROSIS 2; TSC2
GM06146Male17 YR920probandTUBEROUS SCLEROSIS 1; TSC1
GM06149Male17 YR920probandTUBEROUS SCLEROSIS 1; TSC1
GM03933Female16 YR650probandTUBEROUS SCLEROSIS 2; TSC2
GM03958Female16 YR650probandTUBEROUS SCLEROSIS 2; TSC2
GM06120Male22 YR2502probandTUBEROUS SCLEROSIS 1; TSC1
GM06121Male22 YR2502probandTUBEROUS SCLEROSIS 1; TSC1
GM06101Female26 YR2501probandTUBEROUS SCLEROSIS 2; TSC2
GM06102Female26 YR2501probandTUBEROUS SCLEROSIS 2; TSC2
GM06099Female22 YR2500probandTUBEROUS SCLEROSIS 2; TSC2
GM06100Female22 YR2500probandTUBEROUS SCLEROSIS 2; TSC2
GM09375Female79 YR2150motherTUBEROUS SCLEROSIS 2; TSC2
GM09373Female55 YR2150probandTUBEROUS SCLEROSIS 2; TSC2
GM09378Female33 YR2150daughterTUBEROUS SCLEROSIS 2; TSC2
GM09374Female32 YR2150daughterTUBEROUS SCLEROSIS 2; TSC2
GM09377Female30 YR2150daughterTUBEROUS SCLEROSIS 2; TSC2
GM09379Male8 YR2150grandsonTUBEROUS SCLEROSIS 2; TSC2
GM09380Male6 YR2150grandsonTUBEROUS SCLEROSIS 2; TSC2
GM09376Male44 YR2150brotherTUBEROUS SCLEROSIS 2; TSC2