| 1 | ACE, AGT, AGTR1, REN, RTD1, RTD2, RTD3, RTD4
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| Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
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| Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC.
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| Hum Mutat 33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Review.
2012
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| 2 | REN, RTD4
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| Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.
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| Michaud A, Bur D, Gribouval O, Muller L, Iturrioz X, Clemessy M, Gasc JM, Gubler MC, Corvol P.
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| Hum Mol Genet 20(2):301-11. Epub 2010 Oct 29.
2011
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| 3 | RTD1, AGT, AGTR1, ACE, RTD2, REN, RTD4, RTD3
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| Inherited renal tubular dysgenesis: the first patients surviving the neonatal period.
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| Zingg-Schenk A, Bacchetta J, Corvol P, Michaud A, Stallmach T, Cochat P, Gribouval O, Gubler MC, Neuhaus TJ.
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| Eur J Pediatr [Epub ahead of print] 2007
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| 4 | rtd1, rtd2, rtd3, rtd4
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| Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.
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| Lacoste M, Cai Y, Guicharnaud L, Mounier F, Dumez Y, Bouvier R, Dijoud F, Gonzales M, Chatten J, Delezoide AL, Daniel L, Joubert M, Laurent N, Aziza J, Sellami T, Amar HB, Jarnet C, Frances AM, Daikha-Dahmane F, Coulomb A, Neuhaus TJ, Foliguet B, Chenal P, Marcorelles P, Gasc JM, Corvol P, Gubler MC.
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| J Am Soc Nephrol 17(8):2253-63. Epub 2006 Jun 21. 2006
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| 5 | RTD1, AGT, AGTR1, ACE, RTD2, REN, RTD4, RTD3
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| Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
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| Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC.
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| Nat Genet 37(9):964-8. Epub 2005 Aug 14. 2005
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