Inherited renal tubular dysgenesis may not be universally fatal-Reference-Cited by-同舟云学术

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Inherited renal tubular dysgenesis may not be universally fatal

Published:2010-07-06 Issue:12 Volume:25 Page:2531-2534
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Schreiber Ruth,Gubler Marie-Claire,Gribouval Olivier,Shalev Hanna,Landau Daniel

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-010-1584-0.pdf

Reference16 articles.

1. Allanson JE, Hunter AGW, Mettler GS, Jimenez C (1992) Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review. Am J Med Genet 43:811–814

2. Lactose M, Cai Y, Guicharnaud L (2006) Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: role of the renin-angiotensin system. J Am Soc Nephrol 17:2253–2263

3. Gribouval O, Gonzales M, Neuhaus TJ, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Amar HB, Laube GF, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC (2005) Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet 37:964–968

4. Allanson JE, Pantzar JT, Macleod PM (1983) Possible new autosomal recessive syndrome with unusual renal histological changes. Am J Med Genet 16:57–60

5. Zingg-Schenk A, Bacchetta J, Corvol P, Michaud A, Stallmach T, Cochat P, Gribouval O, Gubler MC, Neuhaus TJ (2008) Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. Eur J Pediatr 167:311–316

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1. Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone;Clinical Kidney Journal;2024-07-05

2. Prenatal diagnosis of autosomal recessive renal tubular dysgenesis caused by variants in the ACE gene: Two fetuses with anhydramnios;Prenatal Diagnosis;2023-12-13

3. RAAS-deficient organoids indicate delayed angiogenesis as a possible cause for autosomal recessive renal tubular dysgenesis;Nature Communications;2023-12-09

4. RAAS-Deficient Organoids Reveal that Delayed Angiogenesis Is The Pathomechanism Underlying Autosomal Recessive Renal Tubular Dysplasia;2023-05-16

5. Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature;Molecular Genetics & Genomic Medicine;2022-03-14

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