A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome
Author:
Publisher
Frontiers Media SA
Subject
General Medicine
Reference15 articles.
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2. Human laminin beta 2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities;Zenker;Hum Mol Genet,2004
3. Simultaneous mutations of LAMB2 and NPHP1 genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report;Qiu;BMC Pediatric.,2016
4. LAMB2 mutation with different phenotypes in China;Zhang;Clan Nephrol.,2017
5. Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children;Wang;Gene,2017
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1. Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome;Nephron;2021
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