A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency-Reference-Cited by-同舟云学术

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A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency

Published:2010-08-01 Issue:11 Volume:25 Page:2363-2368
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Bogdanović Radovan,Draaken Markus,Toromanović Alma,Đorđević Maja,Stajić Nataša,Ludwig Michael

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-010-1615-x.pdf

Reference17 articles.

1. Scheinman SJ (1998) X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 53:3–17

2. Ludwig M, Utsch B, Monnens LAH (2006) Recent advances in understanding the clinical and genetic heterogeneity of Dent’s disease. Nephrol Dial Transplant 21:2708–2717

3. Tosseto E, Ghiggeri GM, Emma F, Barbano G, Carrea A, Vezzoli G, Torregrossa R, Cara M, Ripanti G, Ammenti A, Peruzzi L, Murer L, Ratsch IM, Citron L, Gambaro G, D’Angelo A, Anglani F (2006) Phenotypic and genetic heterogeneity in Dent’s disease-the results of an Italian collaborative study. Nephrol Dial Transplant 21:2452–2463

4. Tosetto E, Ceol M, Mezzabotta R, Ammenti A, Peruzzi L, Caruso MR, Barbano G, Vezzoli G, Colussi G, Vergine G, Glorioso N, Degortes S, Soldati L, Sayer J, D’Angelo A, Anglani F (2009) Novel mutations of the CLCN5 gene including a complex allele and A 5’ UTR mutations in Dent disease 1. Clin Genet 76:413–416

5. Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JAE, Ludwig M (2006) Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis 48:942–954

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1. Role of Genetic Testing in Kidney Stone Disease: A Narrative Review;Current Urology Reports;2024-08-03

2. Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene;BMC Nephrology;2022-05-12

3. Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report;Frontiers in Pediatrics;2021-09-28

4. Association of Adult-Onset Bartter Syndrome With Undifferentiated Connective Tissue Disorder;Cureus;2021-08-13

5. Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1;Human Mutation;2021-03

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