Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome-Reference-Cited by-同舟云学术

Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome

Published:2016-02-16 Issue:2 Volume:35 Page:112-119
ISSN:1551-3815
Container-title:Fetal and Pediatric Pathology
language:en
Short-container-title:Fetal and Pediatric Pathology

Author:

Hillen Lisa Maria,Kamsteeg Erik Jan,Schoots Jeroen,Tiebosch Anton Tom,Speel Ernst Jan,Roemen Guido M.,Peutz-Koostra Carine J.,Stumpel Constance T.R.M.

Publisher

Informa UK Limited

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

Link

https://tandfonline.com/doi/pdf/10.3109/15513815.2016.1139018

Reference23 articles.

1. Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)

2. Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

3. Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort

4. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

5. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

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