Variable phenotype of Pierson syndrome-Reference-Cited by-同舟云学术

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Variable phenotype of Pierson syndrome

Published:2008-06 Issue:6 Volume:23 Page:995-1000
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Choi Hyun Jin,Lee Beom Hee,Kang Ju Hyung,Jeong Hyoen Joo,Moon Kyung Chul,Ha Il Soo,Yu Young Suk,Matejas Verena,Zenker Martin,Choi Yong,Cheong Hae Il

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-008-0748-7.pdf

Reference20 articles.

1. Habib R (1993) Nephrotic syndrome in the 1st year of life. Pediatr Nephrol 7:347–353

2. Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F, members of the Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group (2007) Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119:e907–e919

3. Zenker M, Aigner T, Wendler O, Tralau T, Müntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wühl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dötsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A (2004) Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13:2625–2632

4. Miner JH (1999) Renal basement membrane components. Kidney Int 56:2016–2024

5. Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM (2004) Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A 130:138–145

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1. Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant;Ophthalmology Retina;2024-02

2. LAMB2 gene: broad clinical spectrum in Pierson syndrome;CEN Case Reports;2023-12-01

3. Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease;Kidney International Reports;2023-09

4. Clinical Aspects of Genetic Forms of Nephrotic Syndrome;Pediatric Nephrology;2022

5. Genetic Basis of Nephrotic Syndrome;Pediatric Nephrology;2022

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