Tuberous sclerosis complex and early-onset autosomal dominant polycystic kidney disease as a 'contiguous gene' syndrome: Report of a case

Contributions to Nephrology

Volumn 122, Issue , 1997, Pages 96-97

  Mancino, C ^a   Balducci, A ^a  

^a St Giovanni Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN; PROTEIN; REPRESSOR PROTEIN; TUBERIN; TUMOR SUPPRESSOR PROTEIN;

ANGIOMYOLIPOMA; ARTICLE; CASE REPORT; CHROMOSOME 16; GENETICS; HUMAN; INFANT; KIDNEY POLYCYSTIC DISEASE; MALE; MUTATION; ONSET AGE; SYNDROME; TUBEROUS SCLEROSIS;

AGE OF ONSET; ANGIOMYOLIPOMA; CHROMOSOMES, HUMAN, PAIR 16; HUMANS; INFANT; MALE; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEINS; REPRESSOR PROTEINS; SYNDROME; TRPP CATION CHANNELS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0031297240     PISSN: 03025144     EISSN: None     Source Type: Book Series    
DOI: 10.1159/000059874     Document Type: Article

References (6)

1. Nellist M, Brook-Carter PT, Conner JM, et al: Identification of markers flanking the tuberous sclerosis locus on chromosome 9. J Med Genet 1993;30:224-227.
2. The European Chromosome 16 Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-1315.
3. Brook-Carter PT, Peral B, Ward CJ: Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - A contiguous gene syndrome. Nat Genet 1994;8:328-332.
4. Kaplan BS, Kaplan P, Rosemberg HK, Lamothe ER, Rosenblatt DS: Polycystic kidney diseases in childhood. J Pediatr 1989;115:867-880.
5. Fick G, Gabow P: Hereditary and acquired cystic disease of the kidney. Kidney Int 1994;46:964.
6. Sampson J: The kidney in tuberous sclerosis: Manifestations and molecular genetic mechanism. Nephrol Dial Transplant 1996;11(suppl 6):34-37.