Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease.
Smulders
Y M
YM
Department of Nephrology, Academic Medical Centre, Amsterdam, The Netherlands. y.smulders@vumc.nl
Eussen
B H J
BH
Verhoef
S
S
Wouters
C H
CH
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
D011506:Proteins; D012097:Repressor Proteins; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human