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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:BMC Nephrol
Hlavní autoři: Xiong, Shiqiu, Shuai, Lanjun, Li, Xiaoyan, Dang, Xiqiang, Wu, Xiaochuan, He, Qingnan
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Case Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky