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

• Main Authors: Yoon Sunwoo (Author), Naye Choi (Author), Jeesu Min (Author), Jihyun Kim (Author), Yo Han Ahn (Author), Hee Gyung Kang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...