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Article

A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease.

Contributions to nephrology - 1 Jan 1997

Longa L, Brusco A, Carbonara C, Polidoro S, Scolari F, Valzorio B, Riegler P, Tardanico R, Migone N

Abstract excerpt

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Topics

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Share to Chromosomes, Human, Pair 16
Share to Kidney Failure, Chronic
Share to Loss of Heterozygosity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polycystic Kidney, Autosomal Dominant

Share to TRPP Cation Channels

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 9399046
DOI: 10.1159/000059909

Genes

PKD1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease.PMID 9399046Read ↗

Multicystic Kidney Disease in a Family With Tuberous Sclerosis Complex.Semantic proximity Read ↗

Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex–associated Renal Neoplasia and PKD1/TSC2 Contiguous Gene Deletion SyndromeSemantic proximity Read ↗

Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo.Semantic proximity Read ↗

A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.Semantic proximity Read ↗

Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene.Semantic proximity Read ↗

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.Semantic proximity Read ↗

A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney diseaseSemantic proximity Read ↗

Tuberous sclerosis complex renal disease.Semantic proximity Read ↗

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndromeSemantic proximity Read ↗

Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.Semantic proximity Read ↗

Cystic kidney disease in tuberous sclerosis complex: current knowledge and unresolved questionsSemantic proximity Read ↗

Autosomal recessive polycystic kidney disease (ARPKD): new insights from the identification of the ARPKD gene, PKHD1.Semantic proximity Read ↗

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