Any modality of renal replacement therapy can be a treatment option for Joubert syndrome

Joubert syndrome (JS) is an inherited ciliopathy characterized by a distinctive cerebellar and brain stem malformation which is known as the “molar tooth sign” on axial brain images, hypotonia, and developmental delay. Approximately 25–30% of patients with JS have kidney disease and many of them pro...

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Wydane w:Sci Rep
Główni autorzy: Takagi, Yoko, Miura, Kenichiro, Yabuuchi, Tomoo, Kaneko, Naoto, Ishizuka, Kiyonobu, Takei, Mariko, Yajima, Chikage, Ikeuchi, Yuka, Kobayashi, Yasuko, Takizawa, Takumi, Hisano, Masataka, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Hattori, Motoshi
Format: Artigo
Język:Inglês
Wydane: Nature Publishing Group UK 2021
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Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7801635/
https://ncbi.nlm.nih.gov/pubmed/33432080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-80712-4
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