Phenotypic variability of Dent disease in a large New Zealand kindred
Author:
Funder
Starship Foundation (NZ)
Kidney Kids NZ
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00467-016-3472-8.pdf
Reference14 articles.
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2. Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, Gonzalez W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Berard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, Francois H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaitre X, Vargas-Poussou R (2015) Mutation update of the CLCN5 gene responsible for Dent disease 1. Hum Mutat 36:743–752
3. Frishberg Y, Dinour D, Belostotsky R, Becker-Cohen R, Rinat C, Feinstein S, Navon-Elkan P, Ben-Shalom E (2009) Dent’s disease manifesting as focal glomerulosclerosis: is it the tip of the iceberg? Pediatr Nephrol 24:2369–2373
4. Sethi SK, Ludwig M, Kabra M, Hari P, Bagga A (2009) Vitamin a responsive night blindness in Dent’s disease. Pediatr Nephrol 24:1765–1770
5. Bogdanovic R, Draaken M, Toromanovic A, Dordevic M, Stajic N, Ludwig M (2010) A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatr Nephrol 25:2363–2368
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