A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease.
Longa
L
L
CNR-CIOS, Università di Torino, Italia.
Brusco
A
A
Carbonara
C
C
Polidoro
S
S
Scolari
F
F
Valzorio
B
B
Riegler
P
P
Tardanico
R
R
Migone
N
N
D000328:Adult; D018207:Angiomyolipoma / Q000175:diagnosis / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology; D019656:Loss of Heterozygosity / Q000235:genetics; D008297:Male; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D050396:TRPP Cation Channels; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
D005819:Genetic Markers; D011506:Proteins; D012097:Repressor Proteins; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human