title: Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease.
authors.affiliation: Department of Nephrology, Academic Medical Centre, Amsterdam, The Netherlands. y.smulders@vumc.nl
authors.forename: Y M
authors.initials: YM
authors.lastname: Smulders
authors.forename: B H J
authors.initials: BH
authors.lastname: Eussen
authors.forename: S
authors.initials: S
authors.lastname: Verhoef
authors.forename: C H
authors.initials: CH
authors.lastname: Wouters
mesh_terms: D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
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