[TSC2/PKD1 contiguous gene deletion syndrome].
Copyright policy )[TSC2/PKD1 contiguous gene deletion syndrome].
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.
Male, TRPP Cation Channels, Tuberous Sclerosis, Tumor Suppressor Proteins, Tuberous Sclerosis Complex 2 Protein, Humans, Syndrome, Child, Gene Deletion, Polycystic Kidney, Autosomal Recessive
Male, TRPP Cation Channels, Tuberous Sclerosis, Tumor Suppressor Proteins, Tuberous Sclerosis Complex 2 Protein, Humans, Syndrome, Child, Gene Deletion, Polycystic Kidney, Autosomal Recessive
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).8 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!