Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations

BACKGROUND: Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. CASE PRESENTATIONS: An infant presented...

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Bibliografske podrobnosti
izdano v:BMC Nephrol
Main Authors: Kino, Jiro, Tsukaguchi, Hiroyasu, Kimata, Takahisa, Nguyen, Huan Thanh, Nakano, Yorika, Miyake, Noriko, Matsumoto, Naomichi, Kaneko, Kazunari
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2017
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5501564/
https://ncbi.nlm.nih.gov/pubmed/28683731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-017-0632-4
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