title: Cutaneous white spots in a child with polycystic kidneys: a clue to TSC2/PKD1 gene mutation.
authors.affiliation: Department of Pediatrics and. Institute of Human Genetics, University of Heidelberg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Sperandio
authors.forename: L
authors.initials: L
authors.lastname: Weber
authors.forename: A
authors.initials: A
authors.lastname: Jauch
authors.forename: B
authors.initials: B
authors.lastname: Janssen
authors.forename: O
authors.initials: O
authors.lastname: Mehls
authors.forename: F
authors.initials: F
authors.lastname: Schaefer
mesh_terms: 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
chemical_list: D011506:Proteins; D012097:Repressor Proteins; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human