| 1 | ARPKD, PKD, PKD1, PKD2, PKTS, XYLT2
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| Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis.
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| Condac E, Silasi-Mansat R, Kosanke S, Schoeb T, Towner R, Lupu F, Cummings RD, Hinsdale ME.
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| Proc Natl Acad Sci U S A 104(22):9416-21. Epub 2007 May 21. 2007
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| 2 | PKD, PKD1, PKTS, TSC2
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| Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.
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| Laass MW, Spiegel M, Jauch A, Hahn G, Rupprecht E, Vogelberg C, Bartsch O, Huebner A.
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| Pediatr Nephrol 19(6):602-8. Epub 2004 Mar 9. 2004
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| 3 | PKD, PKD1, PKTS, TSC2
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| Renal disease in adults with TSC2/PKD1 contiguous gene syndrome.
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| Martignoni G, Bonetti F, Pea M, Tardanico R, Brunelli M, Eble JN.
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| Am J Surg Pathol 26(2):198-205. 2002
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| 4 | PKD, PKD1, PKTS, TSC2
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| Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.
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| Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, Roy S, Haan E, Bernstein J, Harris PC.
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| Am J Hum Genet 61(4):843-51. 1997
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| 5 | PKTS, TSC2, PKD1
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| Deletion of the TSC2 and PKD1, genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome.
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| Brook-Carter PT, et al.
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| Nat Genet 8 : 328-332. 1994
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