Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report

BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. Podocytic infolding glomerulopathy (PIG) is a newly proposed disease entity characterized by micr...

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Dades bibliogràfiques
Publicat a:BMC Nephrol
Autors principals: Xiong, Shiqiu, Shuai, Lanjun, Li, Xiaoyan, Dang, Xiqiang, Wu, Xiaochuan, He, Qingnan
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216528/
https://ncbi.nlm.nih.gov/pubmed/32393263
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-020-01809-6
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