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Case report: Genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome

Single gene pathogenic mutations have been implicated in up to 30% of pediatric steroid-resistant nephrotic syndrome (SRNS) cases, mostly in infantile patients. Among them is LAMA5, which has been recently discovered and encodes the laminin α5 chain. The laminin α5β2γ1 heterotrimer is an essential c...

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Principais autores: Yoon Sunwoo, Naye Choi, Jeesu Min, Jihyun Kim, Yo Han Ahn, Hee Gyung Kang
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2023-01-01
coleção:Frontiers in Pediatrics
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Acesso em linha:https://www.frontiersin.org/articles/10.3389/fped.2022.1054082/full
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