Cutaneous white spots in a child with polycystic kidneys: a clue to TSC2/PKD1 gene mutation.
Sperandio
M
M
Department of Pediatrics and. Institute of Human Genetics, University of Heidelberg, Germany.
Weber
L
L
Jauch
A
A
Janssen
B
B
Mehls
O
O
Schaefer
F
F
D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000209:etiology* / Q000473:pathology; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D014463:Ultrasonography
D011506:Proteins; D012097:Repressor Proteins; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human